ClinVar for MedGen (Select 370849) - ClinVar

Links from MedGen

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690657	NM_017755.6(NSUN2):c.1198_1201dup (p.Leu401fs)	NSUN2 (L366fs +1 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal recessive 5	GLikely pathogenic
Select item 2500908	NM_017755.6(NSUN2):c.2041_2059del (p.Arg681fs)	NSUN2 (R646fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 2500907	NM_017755.6(NSUN2):c.2062del (p.Thr688fs)	NSUN2 (T653fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 2499572	NM_017755.6(NSUN2):c.962_964delinsTTA (p.Cys321_Ser322delinsPheThr)	NSUN2	Indel (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GLikely pathogenic
Select item 2434448	NM_017755.6(NSUN2):c.1477A>C (p.Asn493His)	NSUN2 (N458H +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 1776982	NM_017755.6(NSUN2):c.1639A>G (p.Asn547Asp)	NSUN2 (N512D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1739169	NM_017755.6(NSUN2):c.116C>T (p.Pro39Leu)	NSUN2 (P39L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1722581	NM_017755.6(NSUN2):c.97-1G>C	NSUN2	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal recessive 5	GPathogenic
Select item 1722540	NM_017755.6(NSUN2):c.953A>C (p.Tyr318Ser)	NSUN2 (Y283S +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GPathogenic
Select item 1705284	NM_017755.6(NSUN2):c.1566del (p.Phe522fs)	NSUN2 (F487fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 5	GLikely pathogenic
Select item 1299234	NM_017755.6(NSUN2):c.340G>A (p.Val114Ile)	NSUN2 (V114I)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 1184813	NM_017755.6(NSUN2):c.1903A>G (p.Asn635Asp)	NSUN2 (N600D +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GLikely pathogenic
Select item 1031998	NM_017755.6(NSUN2):c.767G>A (p.Arg256Lys)	NSUN2 (R221K +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 1031997	NM_017755.6(NSUN2):c.2045G>A (p.Gly682Glu)	NSUN2 (G647E +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 1031996	NM_017755.6(NSUN2):c.2032T>G (p.Cys678Gly)	NSUN2 (C643G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 1031995	NM_017755.6(NSUN2):c.1594C>G (p.Pro532Ala)	NSUN2 (P497A +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 1030592	NM_017755.6(NSUN2):c.604A>G (p.Met202Val)	NSUN2 (M202V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 1030591	NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)	NSUN2 (R354* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 5 +2 more	GPathogenic/Likely pathogenic
Select item 972974	NM_017755.6(NSUN2):c.2026G>A (p.Val676Ile)	NSUN2 (V641I +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	Gnot provided
Select item 907941	NM_017755.6(NSUN2):c.615C>A (p.Pro205=)	NSUN2	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 907940	NM_017755.6(NSUN2):c.862A>G (p.Thr288Ala)	NSUN2 (T288A +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 907939	NM_017755.6(NSUN2):c.914G>A (p.Arg305His)	NSUN2 (R270H +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 907874	NM_017755.6(NSUN2):c.2282C>T (p.Ala761Val)	NSUN2 (A761V +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5 +2 more	GUncertain significance
Select item 907873	NM_017755.6(NSUN2):c.*16C>T	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 906966	NM_017755.6(NSUN2):c.980A>G (p.Glu327Gly)	NSUN2 (E292G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 906965	NM_017755.6(NSUN2):c.989C>G (p.Ala330Gly)	NSUN2 (A295G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 906964	NM_017755.6(NSUN2):c.1022-3C>T	NSUN2	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 906963	NM_017755.6(NSUN2):c.1310A>G (p.Lys437Arg)	NSUN2 (K402R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 906883	NM_017755.6(NSUN2):c.*85G>A	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 906882	NM_017755.6(NSUN2):c.*97C>A	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 906881	NM_017755.6(NSUN2):c.*202C>T	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 906880	NM_017755.6(NSUN2):c.*389A>G	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 905352	NM_017755.6(NSUN2):c.1780G>A (p.Gly594Ser)	NSUN2 (G594S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 905351	NM_017755.6(NSUN2):c.1818+4A>G	NSUN2	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 905286	NM_017755.6(NSUN2):c.*532A>G	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 905285	NM_017755.6(NSUN2):c.*619G>A	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 905284	NM_017755.6(NSUN2):c.*622T>A	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 904640	NM_017755.6(NSUN2):c.255-4A>G	NSUN2	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 904563	NM_017755.6(NSUN2):c.2025C>G (p.Ile675Met)	NSUN2 (I640M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 904562	NM_017755.6(NSUN2):c.2254C>T (p.Pro752Ser)	NSUN2 (P717S +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 834323	NM_017755.6(NSUN2):c.1725_1728del (p.Ser575fs)	NSUN2 (S540fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 828097	NM_017755.6(NSUN2):c.1020del (p.Gly341fs)	NSUN2 (G341fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 5 +1 more	GPathogenic
Select item 804451	NM_017755.6(NSUN2):c.430_431del (p.Lys144fs)	NSUN2 (K144fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 5	GLikely pathogenic
Select item 800516	NM_017755.6(NSUN2):c.839dup (p.Asn280fs)	NSUN2 (N245fs +1 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal recessive 5	GLikely pathogenic
Select item 722336	NM_017755.6(NSUN2):c.1458T>C (p.His486=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 589252	NM_017755.6(NSUN2):c.1422G>A (p.Pro474=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 5 +2 more	GConflicting classifications of pathogenicity
Select item 588071	NM_017755.6(NSUN2):c.123C>T (p.Ile41=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 588068	NM_017755.6(NSUN2):c.486A>G (p.Glu162=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 560234	NM_017755.6(NSUN2):c.1112G>A (p.Gly371Glu)	NSUN2 (G371E +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 560233	NM_017755.6(NSUN2):c.1039G>A (p.Asp347Asn)	NSUN2 (D347N +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 436080	NM_017755.6(NSUN2):c.763G>A (p.Gly255Ser)	NSUN2 (G255S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 436075	NM_017755.6(NSUN2):c.1226+4A>T	NSUN2	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 430834	NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter)	SYNGAP1 (R135*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 354065	NM_017755.6(NSUN2):c.-27C>A	NSUN2	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5 +1 more	GBenign/Likely benign
Select item 354064	NM_017755.6(NSUN2):c.-13G>C	NSUN2	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 354063	NM_017755.6(NSUN2):c.22C>T (p.Arg8Trp)	NSUN2 (R8W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 354062	NM_017755.6(NSUN2):c.138G>A (p.Lys46=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 354061	NM_017755.6(NSUN2):c.258C>T (p.His86=)	NSUN2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 354060	NM_017755.6(NSUN2):c.510G>A (p.Leu170=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 354059	NM_017755.6(NSUN2):c.537+9T>C	NSUN2	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 5 +1 more	GBenign
Select item 354058	NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr)	NSUN2 (A333T +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5 +2 more	GConflicting classifications of pathogenicity
Select item 354057	NM_017755.6(NSUN2):c.1213C>T (p.His405Tyr)	NSUN2 (H405Y +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 354056	NM_017755.6(NSUN2):c.1602-17_1602-15del	NSUN2	Deletion (intron variant)	Intellectual Disability, Recessive +2 more	GBenign/Likely benign
Select item 354055	NM_017755.6(NSUN2):c.1602-14G>C	NSUN2	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 5 +1 more	GConflicting classifications of pathogenicity
Select item 354054	NM_017755.6(NSUN2):c.1602-11G>T	NSUN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 354053	NM_017755.6(NSUN2):c.1879G>A (p.Val627Ile)	NSUN2 (V627I +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5 +2 more	GBenign
Select item 354052	NM_017755.6(NSUN2):c.2006A>G (p.Asp669Gly)	NSUN2 (D669G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5 +1 more	GUncertain significance
Select item 354051	NM_017755.6(NSUN2):c.2043G>A (p.Arg681=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 5 +2 more	GConflicting classifications of pathogenicity
Select item 354050	NM_017755.6(NSUN2):c.2059C>T (p.Arg687Ter)	NSUN2 (R687* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 354049	NM_017755.6(NSUN2):c.2060G>A (p.Arg687Gln)	NSUN2 (R687Q +1 more)	Single nucleotide variant (missense variant +1 more)	NSUN2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 354048	NM_017755.6(NSUN2):c.2188A>G (p.Asn730Asp)	NSUN2 (N730D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 354047	NM_017755.6(NSUN2):c.2283G>A (p.Ala761=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 5 +1 more	GConflicting classifications of pathogenicity
Select item 354046	NM_017755.6(NSUN2):c.*17G>A	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GLikely benign
Select item 354045	NM_017755.6(NSUN2):c.*48C>T	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 354044	NM_017755.6(NSUN2):c.*50T>G	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 354043	NM_017755.6(NSUN2):c.*99G>A	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 354042	NM_017755.6(NSUN2):c.*140T>C	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 354041	NM_017755.6(NSUN2):c.*294C>G	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 354039	NM_017755.6(NSUN2):c.*563C>T	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GBenign
Select item 354038	NM_017755.6(NSUN2):c.*581T>C	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5	GBenign
Select item 211761	NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln)	NSUN2 (R767Q +1 more)	Single nucleotide variant (missense variant +1 more)	NSUN2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 211760	NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg)	NSUN2 (C758R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 211758	NM_017755.6(NSUN2):c.222C>T (p.Leu74=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 211757	NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile)	NSUN2 (V715I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 129845	NM_017755.6(NSUN2):c.97-6C>T	NSUN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 129844	NM_017755.6(NSUN2):c.622+7A>T	NSUN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 129843	NM_017755.6(NSUN2):c.529C>T (p.His177Tyr)	NSUN2 (H177Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 129842	NM_017755.6(NSUN2):c.51G>A (p.Glu17=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign
Select item 129841	NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln)	NSUN2 (P760Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign
Select item 129840	NM_017755.6(NSUN2):c.21T>C (p.Gly7=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	NSUN2-related condition +3 more	GBenign/Likely benign
Select item 129839	NM_017755.6(NSUN2):c.2193C>T (p.Asp731=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign
Select item 129838	NM_017755.6(NSUN2):c.1749G>A (p.Thr583=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	NSUN2-related condition +3 more	GBenign
Select item 37005	NM_017755.6(NSUN2):c.538-1G>C	NSUN2	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal recessive 5	GPathogenic
Select item 31678	NM_017755.6(NSUN2):c.2035G>A (p.Gly679Arg)	NSUN2 (G679R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 31677	NM_017755.6(NSUN2):c.538-11T>G	NSUN2	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 5	GPathogenic
Select item 31676	NM_017755.6(NSUN2):c.1114C>T (p.Gln372Ter)	NSUN2 (Q372* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 5	GPathogenic
Select item 31675	NM_017755.6(NSUN2):c.679C>T (p.Gln227Ter)	NSUN2 (Q227* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 97