ClinVar for MedGen (Select 408255) - ClinVar

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Items: 30

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24127961.	NM_001042424.3(NSD2):c.2826_2827dup (p.Asp943fs) GRCh37: Chr4:1957856-1957857 GRCh38: Chr4:1956129-1956130	NSD2	D943fs	4p partial monosomy syndrome	not provided	no assertion provided
Select item 17091302.	NM_001042424.3(NSD2):c.927G>T (p.Lys309Asn) GRCh37: Chr4:1918764 GRCh38: Chr4:1917037	NSD2	K309N	4p partial monosomy syndrome	Likely pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 16853863.	NM_001042424.3(NSD2):c.3353A>G (p.Tyr1118Cys) GRCh37: Chr4:1962859 GRCh38: Chr4:1961132	NSD2	Y1118C	4p partial monosomy syndrome	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 16841544.	NM_145697.3(NUF2):c.908T>C (p.Leu303Pro) GRCh38: Chr1:163345778	NUF2	L303P	4p partial monosomy syndrome	Uncertain significance	no assertion criteria provided
Select item 16802285.	NM_001042424.3(NSD2):c.4023C>T (p.Pro1341=) GRCh37: Chr4:1980561 GRCh38: Chr4:1978834	NSD2		4p partial monosomy syndrome, Rauch-Steindl syndrome, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15803236.	NM_012318.3(LETM1):c.83-19dup GRCh37: Chr4:1850954-1850955 GRCh38: Chr4:1849227-1849228	LETM1		4p partial monosomy syndrome, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13417357.	NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser) GRCh37: Chr4:1980628 GRCh38: Chr4:1978901	NSD2	G1364S	4p partial monosomy syndrome, not provided	Uncertain significance (Apr 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13086508.	NM_001042424.3(NSD2):c.3223_3226dup (p.Gly1076fs) GRCh37: Chr4:1961431-1961432 GRCh38: Chr4:1959704-1959705	NSD2	G1076fs	4p partial monosomy syndrome	Pathogenic (Oct 28, 2021)	criteria provided, single submitter
Select item 12854429.	NM_001042424.3(NSD2):c.2675G>A (p.Arg892Lys) GRCh37: Chr4:1957576 GRCh38: Chr4:1955849	NSD2	R892K	4p partial monosomy syndrome	Uncertain significance (Nov 6, 2020)	criteria provided, single submitter
Select item 116991910.	NM_012318.3(LETM1):c.326A>G (p.His109Arg) GRCh37: Chr4:1843342 GRCh38: Chr4:1841615	LETM1	H109R	not provided, 4p partial monosomy syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116552311.	NM_001012614.2(CTBP1):c.486C>T (p.Arg162=) GRCh37: Chr4:1219176 GRCh38: Chr4:1225388	CTBP1		not provided, 4p partial monosomy syndrome, Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106551512.	NM_001042424.3(NSD2):c.3271G>A (p.Glu1091Lys) GRCh37: Chr4:1962777 GRCh38: Chr4:1961050	NSD2	E1091K	4p partial monosomy syndrome	Uncertain significance (Dec 17, 2020)	criteria provided, single submitter
Select item 102906913.	NM_001042424.3(NSD2):c.2887C>T (p.Gln963Ter) GRCh37: Chr4:1959665 GRCh38: Chr4:1957938	NSD2	Q963*	4p partial monosomy syndrome	Pathogenic (Mar 9, 2020)	criteria provided, single submitter
Select item 93209614.	NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg) GRCh37: Chr4:1018222 GRCh38: Chr4:1024434	FGFRL1	L281R	4p partial monosomy syndrome	Uncertain significance (Jun 21, 2019)	criteria provided, single submitter
Select item 93037915.	NM_012318.3(LETM1):c.1261A>T (p.Met421Leu) GRCh37: Chr4:1825442 GRCh38: Chr4:1823715	LETM1	M421L	4p partial monosomy syndrome	Uncertain significance (Aug 16, 2019)	criteria provided, single submitter
Select item 78448616.	NM_012318.3(LETM1):c.393C>A (p.Asn131Lys) GRCh37: Chr4:1843275 GRCh38: Chr4:1841548	LETM1	N131K	4p partial monosomy syndrome, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72865517.	NM_001004356.3(FGFRL1):c.541G>A (p.Asp181Asn) GRCh37: Chr4:1017712 GRCh38: Chr4:1023924	FGFRL1	D181N	4p partial monosomy syndrome, not provided	Benign/Likely benign (Mar 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62578218.	GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281) GRCh37: Chr4:19186845-24548281	DHX15, PPARGC1A, SLIT2, PACRGL, GBA3, ADGRA3, KCNIP4		4p partial monosomy syndrome	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 62570019.	GRCh37/hg19 4p16.3(chr4:1305802-2460571) GRCh37: Chr4:1305802-2460571	FAM53A, UVSSA, TMEM129, NKX1-1, SLBP, C4orf48, HAUS3, TACC3, NSD2, LETM1, MXD4, NAT8L, POLN, CRIPAK, ZFYVE28, FGFR3, NELFA, MAEA		4p partial monosomy syndrome	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 62566420.	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) GRCh37: Chr4:75742-8672411	MRFAP1L1, RGS12, MFSD10, PCGF3, TMEM129, CPLX1, GAK, FAM193A, ZNF721, RNF212, ACOX3, IDUA, ABLIM2, ADRA2C, CCDC96, CRMP1, SH3TC1, UVSSA, ZNF732, PPP2R2C, EVC, MAEA, LYAR, DOK7, POLN, C4orf50, ZNF595, NSG1, KIAA0232, GRK4, S100P, SORCS2, JAKMIP1, STX18, CTBP1, RNF4, ZNF718, SPON2, EVC2, HTRA3, NAT8L, AFAP1, MSANTD1, PSAPL1, PDE6B, ZFYVE28, NKX1-1, LRPAP1, MRFAP1, HGFAC, FGFRL1, FGFR3, HAUS3, ZNF141, MSX1, MIR95, STK32B, NELFA, ATP5ME, BLOC1S4, PIGG, GRPEL1, GPR78, NOP14, MXD4, TADA2B, ZBTB49, CPZ, DGKQ, TBC1D14, MAN2B2, LINC01587, ADD1, LETM1, TMEM175, WFS1, OTOP1, TRMT44, TACC3, MYL5, CRIPAK, FAM53A, SH3BP2, HTT, CYTL1, C4orf48, TMEM128, TNIP2, SLBP, SLC26A1, SLC49A3, NSD2		4p partial monosomy syndrome	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 59944921.	NM_001042424.3(NSD2):c.793C>T (p.Gln265Ter) GRCh37: Chr4:1918630 GRCh38: Chr4:1916903	NSD2	Q265*	Wolf-Hirschhorn like syndrome, 4p partial monosomy syndrome	Pathogenic (Nov 15, 2018)	criteria provided, single submitter
Select item 59944822.	NM_001042424.3(NSD2):c.708G>A (p.Trp236Ter) GRCh37: Chr4:1906053 GRCh38: Chr4:1904326	NSD2	W236*	Wolf-Hirschhorn like syndrome, 4p partial monosomy syndrome	Pathogenic (Oct 30, 2018)	criteria provided, single submitter
Select item 59944723.	NM_001042424.3(NSD2):c.1569dup (p.Lys524fs) GRCh37: Chr4:1936881-1936882 GRCh38: Chr4:1935154-1935155	NSD2	K524fs	Wolf-Hirschhorn like syndrome, 4p partial monosomy syndrome	Pathogenic (Oct 30, 2018)	criteria provided, single submitter
Select item 54799924.	NM_133330.2(NSD2):c.1676_1679del GRCh37: Chr4:1940176-1940179 GRCh38: Chr4:1938449-1938452	NSD2		Rauch-Steindl syndrome, not provided, Global developmental delay, 4p partial monosomy syndrome, Neurodevelopmental delay	Pathogenic (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34848825.	NM_001042424.3(NSD2):c.*2012dup GRCh37: Chr4:1982645-1982646 GRCh38: Chr4:1980918-1980919	NSD2		4p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34848526.	NM_001042424.3(NSD2):c.*1922dup GRCh37: Chr4:1982557-1982558 GRCh38: Chr4:1980830-1980831	NSD2		4p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34847427.	NM_001042424.3(NSD2):c.*1370dup GRCh37: Chr4:1981999-1982000 GRCh38: Chr4:1980272-1980273	NSD2		4p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34845828.	NM_001042424.3(NSD2):c.*339CTC[1] GRCh37: Chr4:1980975-1980977 GRCh38: Chr4:1979248-1979250	NSD2		4p partial monosomy syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 34843829.	NM_001042424.3(NSD2):c.1902C>T (p.Asp634=) GRCh37: Chr4:1952819 GRCh38: Chr4:1951092	NSD2		4p partial monosomy syndrome, not provided	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 34840230.	NM_001042424.3(NSD2):c.-29-6901dup GRCh37: Chr4:1895445-1895446 GRCh38: Chr4:1893718-1893719	NSD2		4p partial monosomy syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter

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Items: 30