"Fulgent Genetics, Fulgent Genetics"[submitter] AND "STX16-NPEPL1"[gen - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 339045	NM_001001433.3(STX16):c.141C>T (p.Asp47=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +3 more)	Pseudohypoparathyroidism type 1B +1 more	GBenign/Likely benign
Select item 735849	NM_001001433.3(STX16):c.360T>C (p.His120=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 710614	NM_001001433.3(STX16):c.442C>T (p.Arg148Trp)	STX16, STX16-NPEPL1 (R127W +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GLikely benign
Select item 339053	NM_001001433.3(STX16):c.585G>A (p.Gln195=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GBenign/Likely benign
Select item 339056	NM_001001433.3(STX16):c.904A>G (p.Met302Val)	STX16, STX16-NPEPL1 (M302V +4 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance

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