NSUN3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155713	GRCh38/hg38 3q11.1-11.2(chr3:93800620-94792824)x3	ARL13B, DHFR2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 148990	GRCh38/hg38 3q11.1-11.2(chr3:93808831-94785647)x3	ARL13B, DHFR2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	ABI3BP, ADGRG7 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 144282	GRCh38/hg38 3q11.1-11.2(chr3:93856441-94708419)x3	ARL13B, DHFR2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2964336	NM_022072.5(NSUN3):c.1A>G (p.Met1Val)	DHFR2, LOC129937100 +1 more (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001997	NM_022072.5(NSUN3):c.4C>G (p.Leu2Val)	DHFR2, LOC129937100 +1 more (L2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712320	NM_022072.5(NSUN3):c.13-9T>C	NSUN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1942600	NM_022072.5(NSUN3):c.13-1G>T	NSUN3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3002895	NM_022072.5(NSUN3):c.32G>A (p.Gly11Glu)	NSUN3 (G11E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2555611	NM_022072.5(NSUN3):c.59T>G (p.Val20Gly)	NSUN3 (V20G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1546190	NM_022072.5(NSUN3):c.99C>T (p.Leu33=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2076930	NM_022072.5(NSUN3):c.101G>A (p.Gly34Glu)	NSUN3 (G34E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1961250	NM_022072.5(NSUN3):c.115A>G (p.Thr39Ala)	NSUN3 (T39A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939242	NM_022072.5(NSUN3):c.120A>G (p.Val40=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943842	NM_022072.5(NSUN3):c.122+4A>C	NSUN3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2045641	NM_022072.5(NSUN3):c.122+13C>T	NSUN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925808	NM_022072.5(NSUN3):c.122+18C>T	NSUN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663518	NM_022072.5(NSUN3):c.122+19G>T	NSUN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 978074	NM_022072.5(NSUN3):c.123-615_466+2155del	NSUN3	Deletion (splice acceptor variant +1 more)	Combined oxidative phosphorylation deficiency 48	GPathogenic
Select item 1629679	NM_022072.5(NSUN3):c.123-8A>G	NSUN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3049091	NM_022072.5(NSUN3):c.132A>G (p.Leu44=)	NSUN3	Single nucleotide variant (synonymous variant)	NSUN3-related disorder	GLikely benign
Select item 1939939	NM_022072.5(NSUN3):c.138T>G (p.Ser46=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2275962	NM_022072.5(NSUN3):c.150G>A (p.Trp50Ter)	NSUN3 (W50*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2716819	NM_022072.5(NSUN3):c.158C>G (p.Ala53Gly)	NSUN3 (A53G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979389	NM_022072.5(NSUN3):c.163C>T (p.Leu55=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188808	NM_022072.5(NSUN3):c.172C>T (p.Arg58Ter)	NSUN3 (R58*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2788679	NM_022072.5(NSUN3):c.173G>C (p.Arg58Pro)	NSUN3 (R58P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653990	NM_022072.5(NSUN3):c.176T>C (p.Phe59Ser)	NSUN3 (F59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902613	NM_022072.5(NSUN3):c.197A>G (p.Glu66Gly)	NSUN3 (E66G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072327	NM_022072.5(NSUN3):c.213G>C (p.Leu71Phe)	NSUN3 (L71F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2243037	NM_022072.5(NSUN3):c.220T>A (p.Tyr74Asn)	NSUN3 (Y74N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243038	NM_022072.5(NSUN3):c.221A>C (p.Tyr74Ser)	NSUN3 (Y74S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2072328	NM_022072.5(NSUN3):c.233C>T (p.Ser78Phe)	NSUN3 (S78F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1646686	NM_022072.5(NSUN3):c.240A>T (p.Gly80=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720818	NM_022072.5(NSUN3):c.248C>T (p.Pro83Leu)	NSUN3 (P83L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354114	NM_022072.5(NSUN3):c.269A>G (p.Lys90Arg)	NSUN3 (K90R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010733	NM_022072.5(NSUN3):c.272G>C (p.Cys91Ser)	NSUN3 (C91S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985229	NM_022072.5(NSUN3):c.287C>A (p.Thr96Asn)	NSUN3 (T96N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1900020	NM_022072.5(NSUN3):c.290C>T (p.Pro97Leu)	NSUN3 (P97L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 978075	NM_022072.5(NSUN3):c.295C>T (p.Arg99Ter)	NSUN3 (R99*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3202419	NM_022072.5(NSUN3):c.296G>A (p.Arg99Gln)	NSUN3 (R99Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1917441	NM_022072.5(NSUN3):c.306A>G (p.Ser102=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2583017	NM_022072.5(NSUN3):c.353C>T (p.Ala118Val)	NSUN3 (A118V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886622	NM_022072.5(NSUN3):c.358T>C (p.Ser120Pro)	NSUN3 (S120P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2291190	NM_022072.5(NSUN3):c.371T>G (p.Val124Gly)	NSUN3 (V124G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2891906	NM_022072.5(NSUN3):c.395G>A (p.Gly132Glu)	NSUN3 (G132E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920220	NM_022072.5(NSUN3):c.403G>T (p.Val135Phe)	NSUN3 (V135F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978077	NM_022072.5(NSUN3):c.421G>C (p.Ala141Pro)	NSUN3 (A141P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 48	GPathogenic
Select item 2081076	NM_022072.5(NSUN3):c.424C>T (p.Pro142Ser)	NSUN3 (P142S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072329	NM_022072.5(NSUN3):c.447G>C (p.Leu149=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 978076	NM_022072.5(NSUN3):c.454T>A (p.Cys152Ser)	NSUN3 (C152S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 48	GPathogenic
Select item 2312470	NM_022072.5(NSUN3):c.464C>A (p.Pro155Gln)	NSUN3 (P155Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 809516	NM_022072.5(NSUN3):c.465dup (p.Gly156fs)	NSUN3 (G156fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3010047	NM_022072.5(NSUN3):c.466+5T>C	NSUN3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2776662	NM_022072.5(NSUN3):c.467-2A>G	NSUN3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2022158	NM_022072.5(NSUN3):c.502T>G (p.Leu168Val)	NSUN3 (L168V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019591	NM_022072.5(NSUN3):c.507G>T (p.Arg169Ser)	NSUN3 (R169S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924899	NM_022072.5(NSUN3):c.541C>T (p.Gln181Ter)	NSUN3 (Q181*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2050843	NM_022072.5(NSUN3):c.549G>A (p.Leu183=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1972267	NM_022072.5(NSUN3):c.564A>G (p.Lys188=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1449834	NM_022072.5(NSUN3):c.571G>C (p.Glu191Gln)	NSUN3 (E191Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2268478	NM_022072.5(NSUN3):c.581G>T (p.Gly194Val)	NSUN3 (G194V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202420	NM_022072.5(NSUN3):c.605C>T (p.Pro202Leu)	NSUN3 (P202L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1562012	NM_022072.5(NSUN3):c.621+3A>G	NSUN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916685	NM_022072.5(NSUN3):c.622-6dup	NSUN3	Duplication (intron variant)	not provided	GLikely benign
Select item 2170915	NM_022072.5(NSUN3):c.627A>T (p.Leu209Phe)	NSUN3 (L209F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2986398	NM_022072.5(NSUN3):c.639G>A (p.Pro213=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1484815	NM_022072.5(NSUN3):c.653G>A (p.Arg218Gln)	NSUN3 (R218Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022989	NM_022072.5(NSUN3):c.696G>A (p.Arg232=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057178	NM_022072.5(NSUN3):c.736C>T (p.Leu246=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2272824	NM_022072.5(NSUN3):c.743G>A (p.Arg248Lys)	NSUN3 (R248K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1924357	NM_022072.5(NSUN3):c.743+2T>G	NSUN3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2063879	NM_022072.5(NSUN3):c.743+13A>G	NSUN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961500	NM_022072.5(NSUN3):c.743+15T>C	NSUN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560379	NM_022072.5(NSUN3):c.751A>G (p.Ile251Val)	NSUN3 (I251V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1900650	NM_022072.5(NSUN3):c.760T>C (p.Leu254=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920295	NM_022072.5(NSUN3):c.763C>T (p.Arg255Cys)	NSUN3 (R255C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980011	NM_022072.5(NSUN3):c.786C>T (p.Tyr262=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983494	NM_022072.5(NSUN3):c.788C>G (p.Ser263Cys)	NSUN3 (S263C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2268343	NM_022072.5(NSUN3):c.806A>C (p.Lys269Thr)	NSUN3 (K269T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490397	NM_022072.5(NSUN3):c.818A>T (p.Gln273Leu)	NSUN3 (Q273L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383080	NM_022072.5(NSUN3):c.828C>G (p.Ile276Met)	NSUN3 (I276M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2827458	NM_022072.5(NSUN3):c.831T>C (p.Ser277=)	NSUN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046946	NM_022072.5(NSUN3):c.849C>T (p.His283=)	NSUN3	Single nucleotide variant (synonymous variant)	NSUN3-related disorder	GLikely benign
Select item 2535568	NM_022072.5(NSUN3):c.877G>A (p.Gly293Arg)	NSUN3 (G293R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1977216	NM_022072.5(NSUN3):c.887G>A (p.Arg296Lys)	NSUN3 (R296K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3002429	NM_022072.5(NSUN3):c.964G>A (p.Ala322Thr)	NSUN3 (A322T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2149631	NM_022072.5(NSUN3):c.978G>A (p.Met326Ile)	NSUN3 (M326I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2278461	NM_022072.5(NSUN3):c.986C>T (p.Ala329Val)	NSUN3 (A329V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2772516	NM_022072.5(NSUN3):c.1010C>T (p.Thr337Ile)	NSUN3 (T337I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 3024628	GRCh37/hg19 3q11.1-11.2(chr3:93519764-95321276)x3	ARL13B, DHFR2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2427600	NC_000003.11:g.(?_93772011)_(93845334_?)dup	ARL13B, DHFR2 +1 more	Duplication	Joubert syndrome 8	GUncertain significance
Select item 1808663	GRCh37/hg19 3q11.1-11.2(chr3:93519465-94372131)x1	ARL13B, DHFR2 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527031	GRCh37/hg19 3q11.1-11.2(chr3:93519464-94500476)	ARL13B, DHFR2 +3 more	Copy number gain	not specified	GUncertain significance

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