"Baylor Genetics"[submitter] AND "WNK1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028133	NM_018979.4(WNK1):c.59C>T (p.Pro20Leu)	WNK1 (P20L)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C	GUncertain significance
Select item 424999	NM_213655.5(WNK1):c.2362C>T (p.Arg788Cys)	WNK1 (R788C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 245939	NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile)	WNK1 (L869I +1 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GConflicting classifications of pathogenicity
Select item 953647	NM_213655.5(WNK1):c.3633+1G>T	WNK1	Single nucleotide variant (splice donor variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely pathogenic
Select item 1028132	NM_018979.4(WNK1):c.2267A>C (p.Gln756Pro)	WNK1 (Q755P +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A	GUncertain significance
Select item 657096	NM_018979.4(WNK1):c.4739C>T (p.Pro1580Leu)	WNK1 (P1832L +3 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C +1 more	GUncertain significance
Select item 1028134	NM_018979.4(WNK1):c.6050C>T (p.Ala2017Val)	WNK1 (A1769V +3 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2C	GUncertain significance
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic