C4225398[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522142	NM_052867.4(NALCN):c.4755+1G>T	NALCN	Single nucleotide variant (splice donor variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +3 more	GPathogenic/Likely pathogenic
Select item 1196809	NM_052867.4(NALCN):c.4104-19dup	NALCN	Duplication (intron variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +3 more	GBenign/Likely benign
Select item 1254704	NM_052867.4(NALCN):c.3845C>T (p.Ser1282Leu)	NALCN (S1253L +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +2 more	GConflicting classifications of pathogenicity
Select item 704771	NM_052867.4(NALCN):c.3735A>G (p.Ser1245=)	NALCN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 702036	NM_052867.4(NALCN):c.2859C>T (p.Phe953=)	NALCN	Single nucleotide variant (synonymous variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +2 more	GBenign/Likely benign
Select item 262254	NM_052867.4(NALCN):c.2241C>T (p.Pro747=)	NALCN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1323324	NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter)	NALCN (R603* +1 more)	Single nucleotide variant (nonsense)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 697642	NM_052867.4(NALCN):c.1135-10G>A	LOC126861831, NALCN	Single nucleotide variant (intron variant)	Congenital contractures of the limbs and face, hypotonia, and developmental delay +2 more	GBenign/Likely benign