Related gene-specific medical variations for Gene (Select 54888) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362302	NM_017755.6(NSUN2):c.1357A>G (p.Thr453Ala)	NSUN2 (T418A +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GLikely pathogenic
Select item 3246528	NC_000005.9:g.(?_6600039)_(6633092_?)del	NSUN2	Deletion	not provided	GPathogenic
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 2576060	NM_017755.6(NSUN2):c.359+257C>G	NSUN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2434448	NM_017755.6(NSUN2):c.1477A>C (p.Asn493His)	NSUN2 (N458H +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GUncertain significance
Select item 1690338	NM_017755.6(NSUN2):c.466-49_507del	NSUN2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1319735	NC_000005.10:g.6611086del	NSUN2	Deletion	not provided	GPathogenic
Select item 978176	NM_017755.6(NSUN2):c.1781_1783del (p.Gly594del)	NSUN2 (G559del +1 more)	Deletion (inframe_deletion +1 more)	Global developmental delay	GUncertain significance
Select item 975453	NM_017755.6(NSUN2):c.1950G>C (p.Lys650Asn)	NSUN2 (K615N +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 975452	NM_017755.6(NSUN2):c.608A>C (p.Asn203Thr)	NSUN2 (N168T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975451	NM_017755.6(NSUN2):c.563G>A (p.Gly188Asp)	NSUN2 (G153D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 804451	NM_017755.6(NSUN2):c.430_431del (p.Lys144fs)	NSUN2 (K144fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 5	GLikely pathogenic
Select item 687967	GRCh37/hg19 5p15.31(chr5:6599369-6603435)x1	NSUN2	Copy number loss	not provided	GPathogenic