C1840390[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 323309	NM_032387.5(WNK4):c.14C>T (p.Pro5Leu)	WNK4 (P5L)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B +2 more	GUncertain significance
Select item 323311	NM_032387.5(WNK4):c.47C>T (p.Thr16Ile)	WNK4 (T16I)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B +1 more	GBenign/Likely benign
Select item 889956	NM_032387.5(WNK4):c.92C>A (p.Ala31Glu)	WNK4 (A31E)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B	GBenign/Likely benign
Select item 889958	NM_032387.5(WNK4):c.204G>A (p.Gly68=)	WNK4	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoaldosteronism type 2B	GLikely benign
Select item 891518	NM_032387.5(WNK4):c.643C>T (p.Arg215Trp)	WNK4 (R215W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 891763	NM_032387.5(WNK4):c.924C>T (p.Val308=)	LOC126862568, WNK4 (S2F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 891764	NM_032387.5(WNK4):c.937C>G (p.Pro313Ala)	LOC126862568, WNK4 (P313A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 323316	NM_032387.5(WNK4):c.945C>T (p.Gly315=)	LOC126862568, WNK4 (A9V)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2B +1 more	GBenign/Likely benign
Select item 591336	NM_032387.5(WNK4):c.1095_1096delinsTT (p.Met365Ile)	LOC126862568, WNK4 (C59F +1 more)	Indel (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 323317	NM_032387.5(WNK4):c.1339G>A (p.Asp447Asn)	WNK4 (D447N +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 323318	NM_032387.5(WNK4):c.1477-13A>G	WNK4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 323321	NM_032387.5(WNK4):c.1572G>T (p.Leu524=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B +1 more	GBenign/Likely benign
Select item 890017	NM_032387.5(WNK4):c.1666C>A (p.Pro556Thr)	WNK4 (P556T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 7660	NM_032387.5(WNK4):c.1693C>G (p.Gln565Glu)	WNK4 (Q565E +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GPathogenic
Select item 323326	NM_032387.5(WNK4):c.1719C>T (p.His573=)	WNK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 890019	NM_032387.5(WNK4):c.1743G>A (p.Ser581=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B	GBenign/Likely benign
Select item 891575	NM_032387.5(WNK4):c.1818G>A (p.Gly606=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B	GLikely benign
Select item 323329	NM_032387.5(WNK4):c.1827A>G (p.Pro609=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B +1 more	GBenign/Likely benign
Select item 323330	NM_032387.5(WNK4):c.1853G>T (p.Cys618Phe)	WNK4 (C618F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 323331	NM_032387.5(WNK4):c.1864-11T>C	WNK4	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2B +1 more	GBenign/Likely benign
Select item 693993	NM_032387.5(WNK4):c.2009G>A (p.Arg670His)	WNK4 (R334H +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 891832	NM_032387.5(WNK4):c.2029C>T (p.Arg677Trp)	WNK4 (R677W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 740756	NM_032387.5(WNK4):c.2136G>A (p.Pro712=)	WNK4	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2B +1 more	GLikely benign
Select item 760222	NM_032387.5(WNK4):c.2157+6G>C	WNK4	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 323336	NM_032387.5(WNK4):c.2207G>A (p.Arg736Gln)	WNK4 (R736Q +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GBenign/Likely benign
Select item 323337	NM_032387.5(WNK4):c.2213G>A (p.Arg738Gln)	WNK4 (R738Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 740151	NM_032387.5(WNK4):c.2310A>G (p.Pro770=)	WNK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 262025	NM_032387.5(WNK4):c.3432-20T>C	WNK4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 323353	NM_032387.5(WNK4):c.3523A>G (p.Ile1175Val)	WNK4 (I1175V +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2B	GUncertain significance
Select item 7663	NM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys)	WNK4 (R1185C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 891897	NM_032387.5(WNK4):c.3595C>T (p.Arg1199Cys)	WNK4 (R1199C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 31