NSD2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 348402	NM_001042424.3(NSD2):c.-29-6901dup	NSD2	Duplication (intron variant)	4p partial monosomy syndrome	GUncertain significance
Select item 3066216	NM_001042424.3(NSD2):c.-29-2A>G	NSD2	Single nucleotide variant (splice acceptor variant)	Rauch-Steindl syndrome	GUncertain significance
Select item 596675	NM_001042424.3(NSD2):c.9T>G (p.Phe3Leu)	NSD2 (F3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2506516	NM_001042424.3(NSD2):c.28dup (p.Leu10fs)	NSD2 (L10fs)	Duplication (frameshift variant)	Rauch-Steindl syndrome	GPathogenic
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 2662722	NM_001042424.3(NSD2):c.28C>T (p.Leu10Phe)	NSD2 (L10F)	Single nucleotide variant (missense variant)	not provided	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 3253394	NM_001042424.3(NSD2):c.48_52del (p.Lys17fs)	NSD2 (K17fs)	Deletion (frameshift variant)	not provided	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 2164901	NM_001042424.3(NSD2):c.72A>G (p.Ala24=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1706216	NM_001042424.3(NSD2):c.77A>C (p.Glu26Ala)	NSD2 (E26A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304199	NM_001042424.3(NSD2):c.80T>G (p.Ile27Ser)	NSD2 (I27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 761727	NM_001042424.3(NSD2):c.84C>T (p.Leu28=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157196	NM_001042424.3(NSD2):c.85G>A (p.Gly29Ser)	NSD2 (G29S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633986	NM_001042424.3(NSD2):c.88A>G (p.Ser30Gly)	NSD2 (S30G)	Single nucleotide variant (missense variant)	NSD2-related disorder	GUncertain significance
Select item 1680149	NM_001042424.3(NSD2):c.89G>T (p.Ser30Ile)	NSD2 (S30I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957421	NM_001042424.3(NSD2):c.96C>T (p.Asn32=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 620386	NM_001042424.3(NSD2):c.154C>T (p.Gln52Ter)	NSD2 (Q52*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 756900	NM_001042424.3(NSD2):c.169C>T (p.Leu57=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729024	NM_001042424.3(NSD2):c.171G>T (p.Leu57=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945741	NM_001042424.3(NSD2):c.180G>A (p.Gly60=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 348419	NM_001042424.3(NSD2):c.198C>T (p.Asn66=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2187109	NM_001042424.3(NSD2):c.199G>A (p.Gly67Ser)	NSD2 (G67S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1680150	NM_001042424.3(NSD2):c.207C>T (p.Asp69=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 348421	NM_001042424.3(NSD2):c.216C>G (p.Pro72=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 348422	NM_001042424.3(NSD2):c.228C>T (p.Ala76=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2504971	NM_001042424.3(NSD2):c.242A>T (p.Asp81Val)	NSD2 (D81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1981241	NM_001042424.3(NSD2):c.276C>T (p.Gly92=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1680151	NM_001042424.3(NSD2):c.282C>T (p.His94=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168816	NM_001042424.3(NSD2):c.296G>A (p.Arg99His)	NSD2 (R99H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501370	NM_001042424.3(NSD2):c.302A>G (p.Glu101Gly)	NSD2 (E101G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2175838	NM_001042424.3(NSD2):c.308A>G (p.Gln103Arg)	NSD2 (Q103R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128065	NM_001042424.3(NSD2):c.313A>G (p.Met105Val)	NSD2 (M105V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683419	NM_001042424.3(NSD2):c.331C>T (p.Pro111Ser)	NSD2 (P111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1680152	NM_001042424.3(NSD2):c.341C>G (p.Thr114Ser)	NSD2 (T114S)	Single nucleotide variant (missense variant)	not provided	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 2584531	NM_001042424.3(NSD2):c.367G>T (p.Glu123Ter)	NSD2 (E123*)	Single nucleotide variant (nonsense)	NSD2-related disorder	GPathogenic
Select item 1699693	NM_001042424.3(NSD2):c.370A>G (p.Ile124Val)	NSD2 (I124V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 348423	NM_001042424.3(NSD2):c.381A>G (p.Lys127=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 795947	NM_001042424.3(NSD2):c.393A>G (p.Thr131=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3235862	NM_001042424.3(NSD2):c.450T>A (p.Asp150Glu)	NSD2 (D150E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993697	NM_001042424.3(NSD2):c.452T>C (p.Val151Ala)	NSD2 (V151A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1131061	NM_001042424.3(NSD2):c.465A>G (p.Glu155=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954195	NM_001042424.3(NSD2):c.471T>C (p.Asn157=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914692	NM_001042424.3(NSD2):c.489C>G (p.Asn163Lys)	NSD2 (N163K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 743357	NM_001042424.3(NSD2):c.495G>A (p.Ala165=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022597	NM_001042424.3(NSD2):c.500G>A (p.Arg167Lys)	NSD2 (R167K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977423	NM_001042424.3(NSD2):c.516C>T (p.Ser172=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629080	NM_001042424.3(NSD2):c.530C>G (p.Ser177Cys)	NSD2 (S177C)	Single nucleotide variant (missense variant)	NSD2-related disorder	GUncertain significance
Select item 3251767	NM_001042424.3(NSD2):c.540G>T (p.Glu180Asp)	NSD2 (E180D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749821	NM_001042424.3(NSD2):c.543G>A (p.Gln181=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 348425	NM_001042424.3(NSD2):c.546C>A (p.Gly182=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917344	NM_001042424.3(NSD2):c.555A>G (p.Glu185=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 348427	NM_001042424.3(NSD2):c.576C>T (p.Ile192=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726871	NM_001042424.3(NSD2):c.579A>G (p.Ser193=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103879	NM_001042424.3(NSD2):c.588A>G (p.Ser196=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971019	NM_001042424.3(NSD2):c.595A>G (p.Lys199Glu)	NSD2 (K199E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918138	NM_001042424.3(NSD2):c.597+15T>C	NSD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2691606	NM_001042424.3(NSD2):c.597+17G>A	NSD2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2041967	NM_001042424.3(NSD2):c.598-20C>G	NSD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1680153	NM_001042424.3(NSD2):c.598-20C>A	NSD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1900804	NM_001042424.3(NSD2):c.598-15G>A	NSD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 976658	NM_001042424.3(NSD2):c.619del (p.Cys207fs)	NSD2 (C207fs)	Deletion (frameshift variant)	NSD2-associated disorder +1 more	GPathogenic
Select item 2007469	NM_001042424.3(NSD2):c.619T>G (p.Cys207Gly)	NSD2 (C207G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017333	NM_001042424.3(NSD2):c.622C>T (p.Pro208Ser)	NSD2 (P208S)	Single nucleotide variant (missense variant)	not provided	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 1055095	NM_001042424.3(NSD2):c.640A>G (p.Lys214Glu)	NSD2 (K214E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680154	NM_001042424.3(NSD2):c.652T>C (p.Leu218=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2420156	NM_001042424.3(NSD2):c.662A>G (p.Asn221Ser)	NSD2 (N221S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1680155	NM_001042424.3(NSD2):c.663C>T (p.Asn221=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 715930	NM_001042424.3(NSD2):c.690G>A (p.Val230=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3353741	NM_001042424.3(NSD2):c.692C>T (p.Ser231Leu)	NSD2 (S231L)	Single nucleotide variant (missense variant)	NSD2-related disorder	GUncertain significance
Select item 599448	NM_001042424.3(NSD2):c.708G>A (p.Trp236Ter)	NSD2 (W236*)	Single nucleotide variant (nonsense)	4p partial monosomy syndrome +1 more	GPathogenic
Select item 756192	NM_001042424.3(NSD2):c.735C>G (p.Leu245=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2027710	NM_001042424.3(NSD2):c.761-18T>C	NSD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933296	NM_001042424.3(NSD2):c.761-3T>C	NSD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1937666	NM_001042424.3(NSD2):c.789C>T (p.His263=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 599449	NM_001042424.3(NSD2):c.793C>T (p.Gln265Ter)	NSD2 (Q265*)	Single nucleotide variant (nonsense)	4p partial monosomy syndrome +1 more	GPathogenic
Select item 730738	NM_001042424.3(NSD2):c.801T>C (p.Phe267=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792902	NM_001042424.3(NSD2):c.807C>T (p.Asp269=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985811	NM_001042424.3(NSD2):c.814G>T (p.Glu272Ter)	NSD2 (E272*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1310619	NM_001042424.3(NSD2):c.851T>C (p.Phe284Ser)	NSD2 (F284S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792446	NM_001042424.3(NSD2):c.863G>T (p.Gly288Val)	NSD2 (G288V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3340678	NM_001042424.3(NSD2):c.902C>T (p.Ala301Val)	NSD2 (A301V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 3253366	NM_001042424.3(NSD2):c.908C>G (p.Thr303Arg)	NSD2 (T303R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986195	NM_001042424.3(NSD2):c.908C>T (p.Thr303Met)	NSD2 (T303M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505945	NM_001042424.3(NSD2):c.916G>A (p.Glu306Lys)	NSD2 (E306K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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