"NSD2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 348419	NM_001042424.3(NSD2):c.198C>T (p.Asn66=)	NSD2	Single nucleotide variant (synonymous variant)	NSD2-related disorder +1 more	GBenign/Likely benign
Select item 348421	NM_001042424.3(NSD2):c.216C>G (p.Pro72=)	NSD2	Single nucleotide variant (synonymous variant)	NSD2-related disorder +1 more	GBenign
Select item 348422	NM_001042424.3(NSD2):c.228C>T (p.Ala76=)	NSD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 348423	NM_001042424.3(NSD2):c.381A>G (p.Lys127=)	NSD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 795947	NM_001042424.3(NSD2):c.393A>G (p.Thr131=)	NSD2	Single nucleotide variant (synonymous variant)	NSD2-related disorder +1 more	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 1896395	NM_001042424.3(NSD2):c.928-6del	NSD2	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2635244	NM_001042424.3(NSD2):c.1057del (p.Leu353fs)	NSD2 (L353fs)	Deletion (frameshift variant)	NSD2-related disorder	GLikely pathogenic
Select item 75396	NM_001042424.3(NSD2):c.1248C>T (p.Pro416=)	NSD2	Single nucleotide variant (synonymous variant)	NSD2-related disorder +1 more	GBenign/Likely benign
Select item 348432	NM_001042424.3(NSD2):c.1330A>G (p.Thr444Ala)	NSD2 (T444A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 348433	NM_001042424.3(NSD2):c.1582C>A (p.His528Asn)	NSD2 (H528N)	Single nucleotide variant (missense variant)	NSD2-related disorder +1 more	GBenign/Likely benign
Select item 3044286	NM_001042424.3(NSD2):c.1675-11_1675-10dup	NSD2	Duplication (intron variant)	NSD2-related disorder	GLikely benign
Select item 3059006	NM_001042424.3(NSD2):c.1675-10del	NSD2	Deletion (intron variant)	NSD2-related disorder	GLikely benign
Select item 3055702	NM_001042424.3(NSD2):c.1675-11_1675-10del	NSD2	Deletion (intron variant)	NSD2-related disorder	GLikely benign
Select item 3041256	NM_001042424.3(NSD2):c.1675-12_1675-10del	NSD2	Deletion (intron variant)	NSD2-related disorder	GLikely benign
Select item 1911988	NM_001042424.3(NSD2):c.1675-24_1675-10del	NSD2	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 1905093	NM_001042424.3(NSD2):c.2331G>A (p.Pro777=)	NSD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 734040	NM_001042424.3(NSD2):c.2419G>A (p.Ala807Thr)	NSD2 (A807T)	Single nucleotide variant (missense variant)	NSD2-related disorder +1 more	GBenign/Likely benign
Select item 348441	NM_001042424.3(NSD2):c.2814G>A (p.Pro938=)	NSD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 731776	NM_001042424.3(NSD2):c.3276C>T (p.Tyr1092=)	NSD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 724154	NM_001042424.3(NSD2):c.3375C>T (p.Asp1125=)	NSD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 348444	NM_001042424.3(NSD2):c.3474C>T (p.Asp1158=)	NSD2	Single nucleotide variant (synonymous variant)	NSD2-related disorder +1 more	GBenign
Select item 348446	NM_001042424.3(NSD2):c.3495C>T (p.Ala1165=)	NSD2	Single nucleotide variant (synonymous variant)	NSD2-related disorder +1 more	GBenign/Likely benign
Select item 3047581	NM_001042424.3(NSD2):c.3515-5C>T	NSD2	Single nucleotide variant (intron variant)	NSD2-related disorder	GLikely benign
Select item 348447	NM_001042424.3(NSD2):c.3582A>G (p.Gly1194=)	NSD2	Single nucleotide variant (synonymous variant)	NSD2-related disorder +1 more	GLikely benign
Select item 3032323	NM_001042424.3(NSD2):c.3679C>T (p.Arg1227Trp)	NSD2 (R1227W)	Single nucleotide variant (missense variant)	NSD2-related disorder	GUncertain significance
Select item 2634013	NM_001042424.3(NSD2):c.3881C>T (p.Ser1294Leu)	NSD2 (S1294L)	Single nucleotide variant (missense variant)	NSD2-related disorder	GUncertain significance
Select item 348448	NM_001042424.3(NSD2):c.3900C>T (p.Pro1300=)	NSD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2631670	NM_001042424.3(NSD2):c.3947C>T (p.Thr1316Ile)	NSD2 (T1316I)	Single nucleotide variant (missense variant)	NSD2-related disorder	GUncertain significance
Select item 3044854	NM_001042424.3(NSD2):c.3988G>A (p.Ala1330Thr)	NSD2 (A1330T)	Single nucleotide variant (missense variant)	NSD2-related disorder	GUncertain significance
Select item 1680228	NM_001042424.3(NSD2):c.4023C>T (p.Pro1341=)	NSD2	Single nucleotide variant (synonymous variant)	NSD2-related disorder +3 more	GBenign/Likely benign
Select item 348450	NM_001042424.3(NSD2):c.4026C>G (p.Pro1342=)	NSD2	Single nucleotide variant (synonymous variant)	NSD2-related disorder +1 more	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33