"GeneReviews"[submitter] AND "WNK1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 5161	NM_213655.4(WNK1):c.759+12272_760-5774del	LOC130007151, WNK1	Deletion	Pseudohypoaldosteronism type 2C	GPathogenic
Select item 5162	nsv513769	WNK1	Deletion	Pseudohypoaldosteronism type 2C	GPathogenic
Select item 21269	NM_213655.5(WNK1):c.2952del (p.Glu984fs)	WNK1 (E899fs +1 more)	Deletion (frameshift variant +1 more)	Pseudohypoaldosteronism type 2C +1 more	GPathogenic
Select item 21270	NM_213655.5(WNK1):c.3276dup (p.Ser1093fs)	WNK1 (S1008fs +1 more)	Duplication (frameshift variant +1 more)	Pseudohypoaldosteronism type 2C +1 more	GPathogenic
Select item 5166	NM_213655.5(WNK1):c.3301C>T (p.Gln1101Ter)	WNK1 (Q1101* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 973162	NM_213655.5(WNK1):c.3492dup (p.Asp1165Ter)	WNK1 (D1080* +1 more)	Duplication (nonsense +1 more)	Inborn genetic diseases	GPathogenic

ClinVar