C0268448[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282608	NM_006580.4(CLDN16):c.-45del	CLDN16 (A56fs)	Deletion (5 prime UTR variant)	Primary hypomagnesemia +2 more	GBenign/Likely benign
Select item 903126	NM_006580.4(CLDN16):c.22A>G (p.Ile8Val)	CLDN16 (I8V)	Single nucleotide variant (missense variant)	Primary hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 957227	NM_006580.4(CLDN16):c.106T>C (p.Ser36Pro)	CLDN16 (S36P)	Single nucleotide variant (missense variant)	Primary hypomagnesemia +1 more	GUncertain significance
Select item 713090	NM_006580.4(CLDN16):c.165T>C (p.Phe55=)	CLDN16	Single nucleotide variant (synonymous variant)	Primary hypomagnesemia +1 more	GBenign/Likely benign
Select item 545703	NM_006580.4(CLDN16):c.335_338dup (p.Lys113delinsAsnTer)	CLDN16	Duplication (nonsense)	Primary hypomagnesemia	GLikely pathogenic
Select item 5928	NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp)	CLDN16 (G128D)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GLikely pathogenic
Select item 1678754	NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys)	CLDN16 (G163C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 734800	NM_006580.4(CLDN16):c.532T>C (p.Leu178=)	CLDN16	Single nucleotide variant (synonymous variant)	Primary hypomagnesemia +1 more	GBenign/Likely benign
Select item 1406091	NM_006580.4(CLDN16):c.562T>C (p.Tyr188His)	CLDN16 (Y188H)	Single nucleotide variant (missense variant)	Primary hypomagnesemia +2 more	GUncertain significance
Select item 899505	NM_006580.4(CLDN16):c.628G>A (p.Ala210Thr)	CLDN16 (A210T)	Single nucleotide variant (missense variant)	Primary hypomagnesemia	GUncertain significance