NSUN2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148850	GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148819	GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	LOC126807286, LOC126807287 +384 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144314	GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	ADAMTS16, ADAMTS16-DT +388 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993559, LOC129993560 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59554	GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1	ADAMTS16, ADAMTS16-DT +272 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 147751	GRCh38/hg38 5p15.33-15.31(chr5:1544285-8681441)x3	ADAMTS16, ADAMTS16-DT +161 more	Copy number gain	See cases	GPathogenic
Select item 59603	GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1	LOC129993721, LOC129993722 +334 more	Copy number loss	See cases	GPathogenic
Select item 148505	GRCh38/hg38 5p15.33-15.31(chr5:2886163-7108295)x1	ADAMTS16, ADAMTS16-DT +88 more	Copy number loss	See cases	GPathogenic
Select item 58069	GRCh38/hg38 5p15.33-15.31(chr5:3075612-7650835)x3	ADAMTS16, ADAMTS16-DT +91 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 153385	GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1	LOC126807306, LOC126807307 +304 more	Copy number loss	See cases	GPathogenic
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 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 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 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 354040	NM_017755.6(NSUN2):c.*546del	NSUN2	Deletion (3 prime UTR variant +1 more)	Intellectual Disability, Recessive	GLikely benign
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 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 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 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 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 354043	NM_017755.6(NSUN2):c.*99G>A	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5 +1 more	GBenign
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 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 354044	NM_017755.6(NSUN2):c.*50T>G	NSUN2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 5 +1 more	GBenign/Likely 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 597970	NM_017755.6(NSUN2):c.2288_*21del (p.Val763fs)	NSUN2 (V728fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 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 211761	NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln)	NSUN2 (R767Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2956782	NM_017755.6(NSUN2):c.2290C>A (p.His764Asn)	NSUN2 (H764N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 907874	NM_017755.6(NSUN2):c.2282C>T (p.Ala761Val)	NSUN2 (A761V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 750687	NM_017755.6(NSUN2):c.2280G>A (p.Pro760=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 436071	NM_017755.6(NSUN2):c.2280G>C (p.Pro760=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1978814	NM_017755.6(NSUN2):c.2279C>T (p.Pro760Leu)	NSUN2 (P760L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2782291	NM_017755.6(NSUN2):c.2273G>A (p.Cys758Tyr)	NSUN2 (C758Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 211760	NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg)	NSUN2 (C758R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5 +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)	Inborn genetic diseases +2 more	GLikely benign
Select item 2176754	NM_017755.6(NSUN2):c.2265A>G (p.Thr755=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	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 211759	NM_017755.6(NSUN2):c.2259C>T (p.Asp753=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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)	not provided +1 more	GBenign/Likely benign
Select item 436072	NM_017755.6(NSUN2):c.2218G>A (p.Glu740Lys)	NSUN2 (E740K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2958650	NM_017755.6(NSUN2):c.2208G>A (p.Gln736=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1787466	NM_017755.6(NSUN2):c.2194G>A (p.Val732Met)	NSUN2 (V697M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 129839	NM_017755.6(NSUN2):c.2193C>T (p.Asp731=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 5 +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)	Inborn genetic diseases +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)	not provided +1 more	GLikely benign
Select item 741079	NM_017755.6(NSUN2):c.2166A>G (p.Ala722=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 760812	NM_017755.6(NSUN2):c.2151C>T (p.Leu717=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1914390	NM_017755.6(NSUN2):c.2145del (p.Ile716fs)	NSUN2 (I681fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2122460	NM_017755.6(NSUN2):c.2143G>T (p.Val715Phe)	NSUN2 (V680F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 211757	NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile)	NSUN2 (V715I +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5 +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)	not provided +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)	not provided +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 2899178	NM_017755.6(NSUN2):c.2115G>A (p.Glu705=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	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 1906867	NM_017755.6(NSUN2):c.2078A>G (p.Asn693Ser)	NSUN2 (N658S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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