NSUN4[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2284594	NM_199044.4(NSUN4):c.44G>A (p.Arg15His)	LOC129930480, NSUN4 (R15H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544160	NM_199044.4(NSUN4):c.50A>G (p.Asp17Gly)	LOC129930480, NSUN4 (D17G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530788	NM_199044.4(NSUN4):c.65C>G (p.Pro22Arg)	NSUN4 (P22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202421	NM_199044.4(NSUN4):c.174T>A (p.Asp58Glu)	NSUN4 (D34E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243783	NM_199044.4(NSUN4):c.350C>A (p.Ala117Asp)	NSUN4 (A93D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467197	NM_199044.4(NSUN4):c.377G>T (p.Ser126Ile)	NSUN4 (S126I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323165	NM_199044.4(NSUN4):c.431C>A (p.Pro144His)	NSUN4 (P120H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202422	NM_199044.4(NSUN4):c.508G>A (p.Gly170Ser)	NSUN4 (G170S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222683	NM_199044.4(NSUN4):c.620C>T (p.Pro207Leu)	NSUN4 (P183L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508554	NM_199044.4(NSUN4):c.634A>G (p.Arg212Gly)	NSUN4 (R163G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2212160	NM_199044.4(NSUN4):c.661G>A (p.Val221Met)	NSUN4 (V172M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202423	NM_199044.4(NSUN4):c.695G>A (p.Arg232Gln)	NSUN4 (R208Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202424	NM_199044.4(NSUN4):c.784C>T (p.Arg262Cys)	NSUN4 (R238C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202425	NM_199044.4(NSUN4):c.899A>G (p.Lys300Arg)	NSUN4 (K299R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362479	NM_199044.4(NSUN4):c.911A>G (p.His304Arg)	NSUN4 (H255R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242527	NM_199044.4(NSUN4):c.934C>T (p.Leu312Phe)	NSUN4 (L312F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202426	NM_199044.4(NSUN4):c.952G>A (p.Glu318Lys)	NSUN4 (E269K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525105	NM_199044.4(NSUN4):c.1034G>A (p.Arg345Gln)	NSUN4 (R344Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249848	NM_199044.4(NSUN4):c.1132T>A (p.Cys378Ser)	NSUN4 (C329S +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 152677	GRCh38/hg38 1p33(chr1:46366996-46483577)x3	FAAH, LINC01398 +4 more	Copy number gain	See cases	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 816515	GRCh37/hg19 1p34.1-33(chr1:46768408-47174149)x3	UQCRH, DMBX1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 814072	GRCh37/hg19 1p34.1-33(chr1:46501759-46898503)x3	LURAP1, TSPAN1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443026	GRCh37/hg19 1p34.1-33(chr1:46541307-47088882)x3	DMBX1, FAAH +11 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395564	GRCh37/hg19 1p34.1-33(chr1:46747177-47280720)x3	ATPAF1, CYP4B1 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 30