"Ambry Genetics"[submitter] AND "NSD2"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 348417	NM_001042424.3(NSD2):c.11G>A (p.Ser4Asn)	NSD2 (S4N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3202289	NM_001042424.3(NSD2):c.28C>G (p.Leu10Val)	NSD2 (L10V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202292	NM_001042424.3(NSD2):c.32C>G (p.Ser11Cys)	NSD2 (S11C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202300	NM_001042424.3(NSD2):c.51G>C (p.Lys17Asn)	NSD2 (K17N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301133	NM_001042424.3(NSD2):c.68A>G (p.Gln23Arg)	NSD2 (Q23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535770	NM_001042424.3(NSD2):c.209C>A (p.Ala70Asp)	NSD2 (A70D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202286	NM_001042424.3(NSD2):c.229G>A (p.Asp77Asn)	NSD2 (D77N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1341795	NM_001042424.3(NSD2):c.274G>A (p.Gly92Ser)	NSD2 (G92S)	Single nucleotide variant (missense variant)	Wolf-Hirschhorn like syndrome +1 more	GUncertain significance
Select item 2462269	NM_001042424.3(NSD2):c.277G>A (p.Ala93Thr)	NSD2 (A93T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2609975	NM_001042424.3(NSD2):c.304T>A (p.Ser102Thr)	NSD2 (S102T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3301134	NM_001042424.3(NSD2):c.346C>T (p.Pro116Ser)	NSD2 (P116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1930495	NM_001042424.3(NSD2):c.628A>G (p.Thr210Ala)	NSD2 (T210A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3301129	NM_001042424.3(NSD2):c.634A>G (p.Arg212Gly)	NSD2 (R212G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1680156	NM_001042424.3(NSD2):c.664G>A (p.Val222Ile)	NSD2 (V222I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2047092	NM_001042424.3(NSD2):c.752A>G (p.Lys251Arg)	NSD2 (K251R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3301136	NM_001042424.3(NSD2):c.775G>A (p.Ala259Thr)	NSD2 (A259T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985811	NM_001042424.3(NSD2):c.814G>T (p.Glu272Ter)	NSD2 (E272*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1680157	NM_001042424.3(NSD2):c.884A>T (p.Gln295Leu)	NSD2 (Q295L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1680158	NM_001042424.3(NSD2):c.904C>T (p.Pro302Ser)	NSD2 (P302S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3202301	NM_001042424.3(NSD2):c.929T>A (p.Leu310Gln)	NSD2 (L310Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202302	NM_001042424.3(NSD2):c.940A>G (p.Ile314Val)	NSD2 (I314V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1680161	NM_001042424.3(NSD2):c.958G>A (p.Ala320Thr)	NSD2 (A320T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2544916	NM_001042424.3(NSD2):c.959C>T (p.Ala320Val)	NSD2 (A320V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1088249	NM_001042424.3(NSD2):c.1081A>C (p.Lys361Gln)	NSD2 (K361Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2081006	NM_001042424.3(NSD2):c.1183A>G (p.Ile395Val)	NSD2 (I395V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2495192	NM_001042424.3(NSD2):c.1253T>C (p.Ile418Thr)	NSD2 (I418T)	Single nucleotide variant (missense variant)	Rauch-Steindl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3202281	NM_001042424.3(NSD2):c.1268C>T (p.Pro423Leu)	NSD2 (P423L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187831	NM_001042424.3(NSD2):c.1277C>T (p.Thr426Met)	NSD2 (T426M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3301131	NM_001042424.3(NSD2):c.1325A>G (p.Lys442Arg)	NSD2 (K442R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2602383	NM_001042424.3(NSD2):c.1352G>A (p.Ser451Asn)	NSD2 (S451N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202282	NM_001042424.3(NSD2):c.1394A>G (p.Gln465Arg)	NSD2 (Q465R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3202283	NM_001042424.3(NSD2):c.1465T>A (p.Ser489Thr)	NSD2 (S489T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202284	NM_001042424.3(NSD2):c.1484G>A (p.Ser495Asn)	NSD2 (S495N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3202285	NM_001042424.3(NSD2):c.1522C>G (p.Leu508Val)	NSD2 (L508V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1680172	NM_001042424.3(NSD2):c.1585A>C (p.Thr529Pro)	NSD2 (T529P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2909263	NM_001042424.3(NSD2):c.1592G>C (p.Arg531Thr)	NSD2 (R531T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1680180	NM_001042424.3(NSD2):c.1733C>G (p.Ala578Gly)	NSD2 (A578G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1906395	NM_001042424.3(NSD2):c.1760C>T (p.Thr587Met)	NSD2 (T587M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3301135	NM_001042424.3(NSD2):c.1864T>A (p.Ser622Thr)	NSD2 (S622T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184215	NM_001042424.3(NSD2):c.1885T>C (p.Ser629Pro)	NSD2 (S629P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1927796	NM_001042424.3(NSD2):c.1886C>T (p.Ser629Leu)	NSD2 (S629L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3301137	NM_001042424.3(NSD2):c.2108G>C (p.Gly703Ala)	NSD2 (G703A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188156	NM_001042424.3(NSD2):c.2169C>G (p.Ser723Arg)	NSD2 (S723R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2604809	NM_001042424.3(NSD2):c.2291G>T (p.Cys764Phe)	NSD2 (C764F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2196053	NM_001042424.3(NSD2):c.2414T>C (p.Val805Ala)	NSD2 (V805A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1680197	NM_001042424.3(NSD2):c.2423C>G (p.Ser808Cys)	NSD2 (S808C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2562690	NM_001042424.3(NSD2):c.2475C>G (p.His825Gln)	NSD2 (H825Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2621201	NM_001042424.3(NSD2):c.2494A>G (p.Ser832Gly)	NSD2 (S832G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521894	NM_001042424.3(NSD2):c.2605T>C (p.Cys869Arg)	NSD2 (C869R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202287	NM_001042424.3(NSD2):c.2650A>G (p.Ile884Val)	NSD2 (I884V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534740	NM_001042424.3(NSD2):c.2807T>C (p.Val936Ala)	NSD2 (V936A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202288	NM_001042424.3(NSD2):c.2881+5G>A	NSD2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2168758	NM_001042424.3(NSD2):c.2893G>A (p.Ala965Thr)	NSD2 (A965T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 522054	NM_001042424.3(NSD2):c.2903G>A (p.Arg968His)	NSD2 (R968H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202290	NM_001042424.3(NSD2):c.2909G>A (p.Arg970His)	NSD2 (R970H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1680206	NM_001042424.3(NSD2):c.3016T>C (p.Tyr1006His)	NSD2 (Y1006H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2890862	NM_001042424.3(NSD2):c.3148G>A (p.Glu1050Lys)	NSD2 (E1050K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3202293	NM_001042424.3(NSD2):c.3512C>A (p.Ala1171Glu)	NSD2 (A1171E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608535	NM_001042424.3(NSD2):c.3518C>T (p.Thr1173Met)	NSD2 (T1173M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202294	NM_001042424.3(NSD2):c.3860T>C (p.Val1287Ala)	NSD2 (V1287A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2172484	NM_001042424.3(NSD2):c.3931A>G (p.Thr1311Ala)	NSD2 (T1311A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3301128	NM_001042424.3(NSD2):c.3958C>T (p.Arg1320Trp)	NSD2 (R1320W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3202295	NM_001042424.3(NSD2):c.3981C>G (p.Asp1327Glu)	NSD2 (D1327E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1680227	NM_001042424.3(NSD2):c.4020G>C (p.Lys1340Asn)	NSD2 (K1340N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3301132	NM_001042424.3(NSD2):c.4021C>G (p.Pro1341Ala)	NSD2 (P1341A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1680229	NM_001042424.3(NSD2):c.4024C>T (p.Pro1342Ser)	NSD2 (P1342S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3301130	NM_001042424.3(NSD2):c.4025C>A (p.Pro1342His)	NSD2 (P1342H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2532869	NM_001042424.3(NSD2):c.4027C>T (p.Pro1343Ser)	NSD2 (P1343S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3202297	NM_001042424.3(NSD2):c.4032G>C (p.Glu1344Asp)	NSD2 (E1344D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1680231	NM_001042424.3(NSD2):c.4043C>T (p.Pro1348Leu)	NSD2 (P1348L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2907590	NM_001042424.3(NSD2):c.4048_4053del (p.Gly1350_Lys1351del)	NSD2	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GLikely benign
Select item 3202298	NM_001042424.3(NSD2):c.4069G>A (p.Gly1357Ser)	NSD2 (G1357S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202299	NM_001042424.3(NSD2):c.4075C>T (p.Arg1359Trp)	NSD2 (R1359W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1341735	NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser)	NSD2 (G1364S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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Items: 74