"Ambry Genetics"[submitter] AND "NSUN2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 211761	NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln)	NSUN2 (R767Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 907874	NM_017755.6(NSUN2):c.2282C>T (p.Ala761Val)	NSUN2 (A761V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 588600	NM_017755.6(NSUN2):c.2282C>A (p.Ala761Glu)	NSUN2 (A761E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 129841	NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln)	NSUN2 (P760Q +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5 +2 more	GBenign
Select item 211760	NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg)	NSUN2 (C758R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 436085	NM_017755.6(NSUN2):c.2271C>T (p.Gly757=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2227673	NM_017755.6(NSUN2):c.2260G>A (p.Val754Met)	NSUN2 (V719M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487906	NM_017755.6(NSUN2):c.2231C>T (p.Pro744Leu)	NSUN2 (P709L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 733651	NM_017755.6(NSUN2):c.2223C>T (p.Pro741=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2049957	NM_017755.6(NSUN2):c.2210G>C (p.Arg737Thr)	NSUN2 (R737T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1787466	NM_017755.6(NSUN2):c.2194G>A (p.Val732Met)	NSUN2 (V697M +1 more)	Single nucleotide variant (missense variant +1 more)	NSUN2-related condition +2 more	GConflicting classifications of pathogenicity
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 354048	NM_017755.6(NSUN2):c.2188A>G (p.Asn730Asp)	NSUN2 (N730D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 589542	NM_017755.6(NSUN2):c.2175C>T (p.Thr725=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 211757	NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile)	NSUN2 (V715I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 917593	NM_017755.6(NSUN2):c.2137G>A (p.Glu713Lys)	NSUN2 (E678K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1786447	NM_017755.6(NSUN2):c.2128AAG[2] (p.Lys712del)	NSUN2 (K677del +1 more)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 588169	NM_017755.6(NSUN2):c.2130G>T (p.Lys710Asn)	NSUN2 (K710N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 589051	NM_017755.6(NSUN2):c.2121G>A (p.Leu707=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1786210	NM_017755.6(NSUN2):c.2119T>C (p.Leu707=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1785613	NM_017755.6(NSUN2):c.2084G>A (p.Arg695Gln)	NSUN2 (R660Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381497	NM_017755.6(NSUN2):c.2066T>C (p.Phe689Ser)	NSUN2 (F654S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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)	Intellectual disability, autosomal recessive 5 +3 more	GConflicting classifications of pathogenicity
Select item 354051	NM_017755.6(NSUN2):c.2043G>A (p.Arg681=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1784341	NM_017755.6(NSUN2):c.2007C>T (p.Asp669=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 354052	NM_017755.6(NSUN2):c.2006A>G (p.Asp669Gly)	NSUN2 (D669G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1783855	NM_017755.6(NSUN2):c.1984G>A (p.Glu662Lys)	NSUN2 (E662K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202415	NM_017755.6(NSUN2):c.1981T>C (p.Tyr661His)	NSUN2 (Y661H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1783117	NM_017755.6(NSUN2):c.1945G>A (p.Ala649Thr)	NSUN2 (A614T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3202414	NM_017755.6(NSUN2):c.1934C>A (p.Thr645Asn)	NSUN2 (T610N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1782722	NM_017755.6(NSUN2):c.1923C>A (p.Leu641=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1782664	NM_017755.6(NSUN2):c.1920A>G (p.Lys640=)	NSUN2	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 588032	NM_017755.6(NSUN2):c.1880T>G (p.Val627Gly)	NSUN2 (V627G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 354053	NM_017755.6(NSUN2):c.1879G>A (p.Val627Ile)	NSUN2 (V627I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign
Select item 2500675	NM_017755.6(NSUN2):c.1873G>C (p.Glu625Gln)	NSUN2 (E590Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2468882	NM_017755.6(NSUN2):c.1870A>G (p.Met624Val)	NSUN2 (M589V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1781548	NM_017755.6(NSUN2):c.1863T>G (p.Thr621=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2491758	NM_017755.6(NSUN2):c.1834T>C (p.Tyr612His)	NSUN2 (Y612H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373831	NM_017755.6(NSUN2):c.1822A>G (p.Ile608Val)	NSUN2 (I573V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1779923	NM_017755.6(NSUN2):c.1779C>T (p.Ser593=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 2528977	NM_017755.6(NSUN2):c.1708G>A (p.Val570Met)	NSUN2 (V570M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272822	NM_017755.6(NSUN2):c.1652G>A (p.Arg551Gln)	NSUN2 (R516Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478137	NM_017755.6(NSUN2):c.1651C>T (p.Arg551Trp)	NSUN2 (R551W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Intellectual disability, autosomal recessive 5 +1 more	GUncertain significance
Select item 1926265	NM_017755.6(NSUN2):c.1573G>A (p.Glu525Lys)	NSUN2 (E490K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 589050	NM_017755.6(NSUN2):c.1511C>T (p.Pro504Leu)	NSUN2 (P504L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1773997	NM_017755.6(NSUN2):c.1500_1508del (p.Val501_Gly503del)	NSUN2	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297894	NM_017755.6(NSUN2):c.1489A>G (p.Lys497Glu)	NSUN2 (K462E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1773639	NM_017755.6(NSUN2):c.1484G>A (p.Gly495Asp)	NSUN2 (G495D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 589252	NM_017755.6(NSUN2):c.1422G>A (p.Pro474=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2340816	NM_017755.6(NSUN2):c.1421C>T (p.Pro474Leu)	NSUN2 (P439L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240674	NM_017755.6(NSUN2):c.1346_1352del (p.Thr449fs)	NSUN2 (T414fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1770431	NM_017755.6(NSUN2):c.1344G>A (p.Glu448=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1176806	NM_017755.6(NSUN2):c.1313G>A (p.Arg438His)	NSUN2 (R403H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1768989	NM_017755.6(NSUN2):c.1287A>G (p.Lys429=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3202411	NM_017755.6(NSUN2):c.1177T>A (p.Phe393Ile)	NSUN2 (F393I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1950883	NM_017755.6(NSUN2):c.1166G>A (p.Arg389Gln)	NSUN2 (R354Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 736541	NM_017755.6(NSUN2):c.1146C>T (p.His382=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 589341	NM_017755.6(NSUN2):c.1135G>A (p.Ala379Thr)	NSUN2 (A379T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3202410	NM_017755.6(NSUN2):c.1105A>G (p.Lys369Glu)	NSUN2 (K369E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1790257	NM_017755.6(NSUN2):c.1095+5C>G	NSUN2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 589552	NM_017755.6(NSUN2):c.1082T>A (p.Ile361Asn)	NSUN2 (I361N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1783646	NM_017755.6(NSUN2):c.1071G>A (p.Trp357Ter)	NSUN2 (W322* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 354058	NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr)	NSUN2 (A333T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2315264	NM_017755.6(NSUN2):c.920C>T (p.Ala307Val)	NSUN2 (A272V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542697	NM_017755.6(NSUN2):c.919G>A (p.Ala307Thr)	NSUN2 (A272T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 211762	NM_017755.6(NSUN2):c.915C>T (p.Arg305=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1337364	NM_017755.6(NSUN2):c.891-3T>C	NSUN2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2231419	NM_017755.6(NSUN2):c.891-6C>G	NSUN2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2250051	NM_017755.6(NSUN2):c.872A>G (p.Asn291Ser)	NSUN2 (N291S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1763355	NM_017755.6(NSUN2):c.842T>C (p.Ile281Thr)	NSUN2 (I281T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 588776	NM_017755.6(NSUN2):c.796T>C (p.Leu266=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1203937	NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter)	NSUN2 (R229* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive non-syndromic intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 1254788	NM_017755.6(NSUN2):c.757G>C (p.Val253Leu)	NSUN2 (V218L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1758774	NM_017755.6(NSUN2):c.740C>A (p.Pro247His)	NSUN2 (P212H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1522017	NM_017755.6(NSUN2):c.736A>G (p.Ile246Val)	NSUN2 (I246V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 588659	NM_017755.6(NSUN2):c.732C>T (p.Ser244=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2595984	NM_017755.6(NSUN2):c.716T>A (p.Val239Asp)	NSUN2 (V204D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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
Select item 2455136	NM_017755.6(NSUN2):c.670C>G (p.Leu224Val)	NSUN2 (L189V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1753650	NM_017755.6(NSUN2):c.645T>C (p.Asp215=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 588379	NM_017755.6(NSUN2):c.612C>A (p.Val204=)	NSUN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1971353	NM_017755.6(NSUN2):c.601G>A (p.Asp201Asn)	NSUN2 (D166N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2232241	NM_017755.6(NSUN2):c.535A>G (p.Lys179Glu)	NSUN2 (K179E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 129843	NM_017755.6(NSUN2):c.529C>T (p.His177Tyr)	NSUN2 (H177Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1746280	NM_017755.6(NSUN2):c.523C>T (p.Arg175Trp)	NSUN2 (R140W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 354060	NM_017755.6(NSUN2):c.510G>A (p.Leu170=)	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)	Intellectual disability, autosomal recessive 5 +3 more	GConflicting classifications of pathogenicity
Select item 2624071	NM_017755.6(NSUN2):c.464C>G (p.Ser155Cys)	NSUN2 (S155C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1738813	NM_017755.6(NSUN2):c.421C>G (p.His141Asp)	NSUN2 (H141D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1738484	NM_017755.6(NSUN2):c.417G>A (p.Ser139=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2239020	NM_017755.6(NSUN2):c.404T>C (p.Ile135Thr)	NSUN2 (I100T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1733784	NM_017755.6(NSUN2):c.366T>C (p.Pro122=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2307163	NM_017755.6(NSUN2):c.360-5G>C	NSUN2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 589110	NM_017755.6(NSUN2):c.321G>A (p.Val107=)	NSUN2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 588225	NM_017755.6(NSUN2):c.296T>G (p.Phe99Cys)	NSUN2 (F99C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3202417	NM_017755.6(NSUN2):c.280T>G (p.Leu94Val)	NSUN2 (L94V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 354061	NM_017755.6(NSUN2):c.258C>T (p.His86=)	NSUN2	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 5 +4 more	GConflicting classifications of pathogenicity

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