ClinVar for Gene (Select 387338) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301188	NM_199044.4(NSUN4):c.410G>A (p.Gly137Glu)	NSUN4 (G137E +2 more)	Single nucleotide variant (missense variant +1 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 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 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 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 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 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 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
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 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 2508554	NM_199044.4(NSUN4):c.634A>G (p.Arg212Gly)	NSUN4 (R163G +3 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 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 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 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 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 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 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 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 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 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	AGL, AGMAT +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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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
Select item 152677	GRCh38/hg38 1p33(chr1:46366996-46483577)x3	FAAH, LINC01398 +4 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 31