ClinVar for Gene (Select 54888) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3202416	NM_017755.6(NSUN2):c.199A>C (p.Met67Leu)	NSUN2 (M67L)	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 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 3202412	NM_017755.6(NSUN2):c.172G>A (p.Val58Met)	NSUN2 (V58M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	ADAMTS16, ADCY2 +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062869	GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1	ADAMTS16, ADCY2 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 3026075	NM_017755.6(NSUN2):c.1593A>G (p.Pro531=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3022620	NM_017755.6(NSUN2):c.1011A>G (p.Glu337=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3021596	NM_017755.6(NSUN2):c.816-11C>T	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009867	NM_017755.6(NSUN2):c.600C>T (p.Ala200=)	NSUN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009064	NM_017755.6(NSUN2):c.891-13T>C	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005366	NM_017755.6(NSUN2):c.672C>T (p.Leu224=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002481	NM_017755.6(NSUN2):c.1323+9T>C	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998794	NM_017755.6(NSUN2):c.564C>T (p.Gly188=)	NSUN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998412	NM_017755.6(NSUN2):c.1738-15T>C	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991617	NM_017755.6(NSUN2):c.538-17del	NSUN2	Deletion (intron variant)	not provided	GLikely benign
Select item 2990857	NM_017755.6(NSUN2):c.1179C>T (p.Phe393=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2989838	NM_017755.6(NSUN2):c.891-11T>C	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988102	NM_017755.6(NSUN2):c.406T>C (p.Leu136=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987244	NM_017755.6(NSUN2):c.815+9C>T	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984614	NM_017755.6(NSUN2):c.69C>G (p.Ala23=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982606	NM_017755.6(NSUN2):c.639G>A (p.Ala213=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982180	NM_017755.6(NSUN2):c.1997+16C>G	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978594	NM_017755.6(NSUN2):c.1716G>A (p.Leu572=)	NSUN2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2976008	NM_017755.6(NSUN2):c.129G>A (p.Lys43=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970427	NM_017755.6(NSUN2):c.1021+14A>G	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969230	NM_017755.6(NSUN2):c.885A>G (p.Leu295=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965861	NM_017755.6(NSUN2):c.108A>G (p.Gly36=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965074	NM_017755.6(NSUN2):c.96+19C>T	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2958025	NM_017755.6(NSUN2):c.2072C>A (p.Pro691His)	NSUN2 (P691H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956782	NM_017755.6(NSUN2):c.2290C>A (p.His764Asn)	NSUN2 (H764N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956603	NM_017755.6(NSUN2):c.309G>C (p.Glu103Asp)	NSUN2 (E103D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2914788	NM_017755.6(NSUN2):c.456A>G (p.Glu152=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905760	NM_017755.6(NSUN2):c.1209C>T (p.Ala403=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2883910	NM_017755.6(NSUN2):c.483A>G (p.Gln161=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2877274	NM_017755.6(NSUN2):c.1738-9del	NSUN2	Deletion (intron variant)	not provided	GBenign
Select item 2875819	NM_017755.6(NSUN2):c.211A>G (p.Arg71Gly)	NSUN2 (R71G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2865434	NM_017755.6(NSUN2):c.507A>G (p.Pro169=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2858490	NM_017755.6(NSUN2):c.1398_1399delinsCTTCTGTTTTTTTTTTTATCTATCATGTTCACAAAGTAAAAGTTTACTTTCTCCTTAAATTAAAAGATTGAGTAACCTCTAAAGTTTC (p.Asp467delinsPheCysPhePhePheTyrLeuSerCysSerGlnSerLysSerLeuLeuSerProTer)	NSUN2	Indel (nonsense +1 more)	not provided	GPathogenic
Select item 2856351	NM_017755.6(NSUN2):c.1251_1252del (p.Asn418fs)	NSUN2 (N383fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2851477	NM_017755.6(NSUN2):c.1950G>A (p.Lys650=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2838942	NM_017755.6(NSUN2):c.705C>T (p.Cys235=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2830024	NM_017755.6(NSUN2):c.1509-14_1509-7del	NSUN2	Deletion (intron variant)	not provided	GLikely benign
Select item 2829902	NM_017755.6(NSUN2):c.1819-14C>G	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818269	NM_017755.6(NSUN2):c.1602-6G>A	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818105	NM_017755.6(NSUN2):c.2011C>T (p.Leu671=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2814466	NM_017755.6(NSUN2):c.162G>A (p.Glu54=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2800568	NM_017755.6(NSUN2):c.254+16C>T	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790954	NM_017755.6(NSUN2):c.1997+13A>G	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788519	NM_017755.6(NSUN2):c.1819-25TC[2]	NSUN2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2785646	NM_017755.6(NSUN2):c.759G>A (p.Val253=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2784085	NM_017755.6(NSUN2):c.416C>A (p.Ser139Ter)	NSUN2 (S139* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 2779851	NM_017755.6(NSUN2):c.891-8C>T	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779143	NM_017755.6(NSUN2):c.1809G>C (p.Leu603=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2759285	NM_017755.6(NSUN2):c.766A>C (p.Arg256=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2759245	NM_017755.6(NSUN2):c.360-9T>C	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754754	NM_017755.6(NSUN2):c.1341A>G (p.Ala447=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2747469	NM_017755.6(NSUN2):c.1509-10C>T	NSUN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725365	NM_017755.6(NSUN2):c.900G>A (p.Leu300=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2699555	NM_017755.6(NSUN2):c.1868C>G (p.Ser623Ter)	NSUN2 (S588* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2698291	NM_017755.6(NSUN2):c.465+12_465+17del	NSUN2	Deletion (intron variant)	not provided	GLikely benign
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 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2663172	NM_017755.6(NSUN2):c.901C>T (p.Arg301Trp)	NSUN2 (R266W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662244	NM_017755.6(NSUN2):c.1826A>G (p.Tyr609Cys)	NSUN2 (Y574C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655292	NM_017755.6(NSUN2):c.135C>T (p.Asn45=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655291	NM_017755.6(NSUN2):c.273C>T (p.Leu91=)	NSUN2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2655290	NM_017755.6(NSUN2):c.975T>G (p.Pro325=)	NSUN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 2576060	NM_017755.6(NSUN2):c.359+257C>G	NSUN2	Single nucleotide variant (intron variant)	not provided	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 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 2506872	NM_017755.6(NSUN2):c.1617_1621dup (p.Pro541fs)	NSUN2 (P506fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
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 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 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 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 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

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