NSUN5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	ABHD11, ABHD11-AS1 +350 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +349 more	Copy number gain	See cases	GPathogenic
Select item 58552	GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1	AUTS2, BAZ1B +117 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146545	GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1	BAZ1B, BCL7B +49 more	Copy number loss	See cases	GPathogenic
Select item 155277	GRCh38/hg38 7q11.22-11.23(chr7:71478043-73444574)x1	BAZ1B, CALN1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 58217	GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3	ABHD11, ABHD11-AS1 +162 more	Copy number gain	See cases	GPathogenic
Select item 58218	GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3	ABHD11, ABHD11-AS1 +147 more	Copy number gain	See cases	GPathogenic
Select item 57313	GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1	ABHD11, ABHD11-AS1 +141 more	Copy number loss	See cases	GPathogenic
Select item 147066	GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3	ABHD11, ABHD11-AS1 +140 more	Copy number gain	See cases	GPathogenic
Select item 148663	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	ABHD11, ABHD11-AS1 +148 more	Copy number gain	See cases	GPathogenic
Select item 146414	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	ABHD11, ABHD11-AS1 +148 more	Copy number gain	See cases	GUncertain significance
Select item 59305	GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 153242	GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3	ABHD11, ABHD11-AS1 +132 more	Copy number gain	See cases	GPathogenic
Select item 152064	GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3	ABHD11, ABHD11-AS1 +134 more	Copy number gain	See cases	GPathogenic
Select item 150322	GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1	ABHD11, ABHD11-AS1 +134 more	Copy number loss	See cases	GPathogenic
Select item 149044	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 149043	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3	LOC129998592, LOC129998593 +133 more	Copy number gain	See cases	GPathogenic
Select item 2505469	Single allele	ABHD11, ABHD11-AS1 +132 more	Deletion	Williams syndrome	GPathogenic
Select item 2499666	GRCh38/hg38 7q11.23(chr7:73229597-74727852)	ABHD11, ABHD11-AS1 +131 more	Copy number loss	Williams syndrome	GPathogenic
Select item 149310	GRCh38/hg38 7q11.23(chr7:73271690-74727989)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 155323	GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3	LOC129998592, LOC129998593 +129 more	Copy number gain	See cases	GPathogenic
Select item 154347	GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 153973	GRCh38/hg38 7q11.23(chr7:73280574-74727918)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 150236	GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3	ABHD11, ABHD11-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 149309	GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 147170	GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 59315	GRCh38/hg38 7q11.23(chr7:73280574-74723034)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 58238	GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3	ABHD11, ABHD11-AS1 +132 more	Copy number gain	See cases	GPathogenic
Select item 58237	GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 58219	GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 154259	GRCh38/hg38 7q11.23(chr7:73286125-74732517)x3	DNAJC30, EIF4H +129 more	Copy number gain	See cases	GPathogenic
Select item 154824	GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 151986	GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 151015	GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1	ABHD11, ABHD11-AS1 +132 more	Copy number loss	See cases	GPathogenic
Select item 149308	GRCh38/hg38 7q11.23(chr7:73286412-74727989)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 148662	GRCh38/hg38 7q11.23(chr7:73286412-73556222)x1	BAZ1B, BCL7B +12 more	Copy number loss	See cases	GUncertain significance
Select item 59319	GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 59318	GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 59317	GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 59316	GRCh38/hg38 7q11.23(chr7:73286412-74723034)x1	EIF4H, ELN +129 more	Copy number loss	See cases	GPathogenic
Select item 154080	GRCh38/hg38 7q11.23(chr7:73286508-74727852)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 153978	GRCh38/hg38 7q11.23(chr7:73286522-74727156)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 2274506	NM_148956.4(NSUN5):c.1375G>A (p.Gly459Ser)	NSUN5 (G459S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607549	NM_148956.4(NSUN5):c.1349A>G (p.Lys450Arg)	NSUN5 (K450R)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2525575	NM_148956.4(NSUN5):c.1328C>G (p.Pro443Arg)	NSUN5 (P443R)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2459073	NM_148956.4(NSUN5):c.1276G>A (p.Glu426Lys)	NSUN5 (E388K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406253	NM_148956.4(NSUN5):c.1216C>T (p.Arg406Trp)	NSUN5 (R406W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390919	NM_148956.4(NSUN5):c.1202C>G (p.Ala401Gly)	NSUN5 (A363G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596590	NM_148956.4(NSUN5):c.1178G>A (p.Arg393Gln)	NSUN5 (R355Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601006	NM_148956.4(NSUN5):c.1172C>T (p.Pro391Leu)	NSUN5 (P391L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211693	NM_148956.4(NSUN5):c.1165G>C (p.Ala389Pro)	NSUN5 (A351P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291698	NM_148956.4(NSUN5):c.1162C>T (p.Pro388Ser)	NSUN5 (P350S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399134	NM_148956.4(NSUN5):c.1112G>A (p.Arg371Gln)	NSUN5 (R333Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476541	NM_148956.4(NSUN5):c.1105G>A (p.Val369Met)	NSUN5 (V331M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281986	NM_148956.4(NSUN5):c.1100A>C (p.Glu367Ala)	NSUN5 (E329A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358126	NM_148956.4(NSUN5):c.1057C>T (p.Arg353Trp)	NSUN5 (R315W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493021	NM_148956.4(NSUN5):c.1033G>A (p.Ala345Thr)	NSUN5 (A345T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380620	NM_148956.4(NSUN5):c.1019G>A (p.Arg340Gln)	NSUN5 (R302Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202441	NM_148956.4(NSUN5):c.985G>C (p.Val329Leu)	NSUN5 (V329L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202440	NM_148956.4(NSUN5):c.973A>T (p.Thr325Ser)	NSUN5 (T287S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270862	NM_148956.4(NSUN5):c.968C>T (p.Ala323Val)	NSUN5 (A323V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217419	NM_148956.4(NSUN5):c.964G>A (p.Gly322Arg)	NSUN5 (G322R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202439	NM_148956.4(NSUN5):c.955G>C (p.Glu319Gln)	NSUN5 (E319Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332804	NM_148956.4(NSUN5):c.951G>C (p.Gln317His)	NSUN5 (Q279H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 144925	GRCh38/hg38 7q11.23(chr7:73304255-74718954)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 2588626	NM_148956.4(NSUN5):c.895G>C (p.Val299Leu)	NSUN5 (V261L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202438	NM_148956.4(NSUN5):c.890A>G (p.His297Arg)	NSUN5 (H259R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2574138	NC_000007.14:g.73304277_74727414del	ABHD11, ABHD11-AS1 +129 more	Deletion	Williams syndrome	GPathogenic
Select item 155565	GRCh38/hg38 7q11.23(chr7:73304280-74727852)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 3202437	NM_148956.4(NSUN5):c.805A>G (p.Thr269Ala)	NSUN5 (T231A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545139	NM_148956.4(NSUN5):c.781G>A (p.Ala261Thr)	NSUN5 (A223T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596012	NM_148956.4(NSUN5):c.727C>G (p.His243Asp)	NSUN5 (H205D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280743	NM_148956.4(NSUN5):c.674C>T (p.Pro225Leu)	NSUN5 (P225L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616377	NM_148956.4(NSUN5):c.625A>G (p.Ile209Val)	NSUN5 (I171V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380566	NM_148956.4(NSUN5):c.616G>A (p.Gly206Arg)	NSUN5 (G168R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202435	NM_148956.4(NSUN5):c.608A>G (p.Tyr203Cys)	NSUN5 (Y165C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202434	NM_148956.4(NSUN5):c.515G>A (p.Arg172Gln)	NSUN5 (R134Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311269	NM_148956.4(NSUN5):c.425C>T (p.Thr142Ile)	NSUN5 (T104I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344273	NM_148956.4(NSUN5):c.388C>G (p.Pro130Ala)	NSUN5 (P92A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346514	NM_148956.4(NSUN5):c.386G>T (p.Gly129Val)	NSUN5 (G129V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296220	NM_148956.4(NSUN5):c.380G>C (p.Arg127Thr)	NSUN5 (R89T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514221	NM_148956.4(NSUN5):c.340G>C (p.Gly114Arg)	NSUN5 (G114R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202432	NM_148956.4(NSUN5):c.337C>T (p.Arg113Trp)	NSUN5 (R75W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202430	NM_148956.4(NSUN5):c.234G>T (p.Leu78Phe)	NSUN5 (L78F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202429	NM_148956.4(NSUN5):c.187G>A (p.Glu63Lys)	NSUN5 (E63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202428	NM_148956.4(NSUN5):c.181C>A (p.Arg61Ser)	NSUN5 (R61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250635	NM_148956.4(NSUN5):c.131A>G (p.Gln44Arg)	NSUN5 (Q44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202431	NM_148956.4(NSUN5):c.28G>T (p.Val10Leu)	NSUN5 (V10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202427	NM_148956.4(NSUN5):c.17C>T (p.Ala6Val)	NSUN5 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148885	GRCh37/hg19 7q11.23(chr7:72701099-74186150)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic
Select item 3062986	GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3	ABHD11, ABHD11-AS1 +35 more	Copy number gain	not specified	GPathogenic
Select item 2685247	GRCh37/hg19 7q11.23(chr7:72718278-72818671)x1	TRIM50, FKBP6 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684488	GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3	NCF1, NSUN5 +27 more	Copy number gain	not provided	GPathogenic
Select item 2575239	GRCh37/hg19 7q11.23(chr7:72718277-74142256)	TBL2, TMEM270 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2574694	GRCh37/hg19 7q11.23(chr7:72664461-74162586)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2506562	GRCh37/hg19 7q11.23(chr7:72717395-74173168)	BAZ1B, CLDN4 +25 more	Copy number loss	Williams syndrome	GPathogenic

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