C0795950[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 1029940	NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter)	SLC12A6 (R693* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 991872	NM_001365088.1(SLC12A6):c.1847A>G (p.Asn616Ser)	SLC12A6 (N557S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 991873	NM_001365088.1(SLC12A6):c.1826T>C (p.Val609Ala)	SLC12A6 (V550A +4 more)	Single nucleotide variant (missense variant)	Agenesis of the corpus callosum with peripheral neuropathy +2 more	GUncertain significance
Select item 1085188	NM_001365088.1(SLC12A6):c.1815G>A (p.Pro605=)	SLC12A6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 991874	NM_001365088.1(SLC12A6):c.1650-7T>C	SLC12A6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 370396	NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter)	SLC12A6, LOC129390683 (Q168* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 246541	NM_001365088.1(SLC12A6):c.338G>A (p.Arg113Gln)	SLC12A6 (R113Q +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 941545	NM_001365088.1(SLC12A6):c.316+1G>A	SLC12A6	Single nucleotide variant (splice donor variant +1 more)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GLikely pathogenic