"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KLHL3"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1314383	NM_017415.3(KLHL3):c.1654G>T (p.Ala552Ser)	KLHL3 (A470S +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 30518	NM_017415.3(KLHL3):c.1583G>A (p.Arg528His)	KLHL3 (R528H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 30522	NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys)	KLHL3 (R528C +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D	GPathogenic/Likely pathogenic
Select item 350985	NM_017415.3(KLHL3):c.1421C>T (p.Ala474Val)	KLHL3 (A474V +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 350986	NM_017415.3(KLHL3):c.1401C>A (p.Thr467=)	KLHL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2D +2 more	GBenign/Likely benign
Select item 350987	NM_017415.3(KLHL3):c.1321+10C>T	KLHL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2D +2 more	GLikely benign
Select item 100550	NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn)	KLHL3 (S432N +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D	GLikely pathogenic
Select item 100530	NM_017415.3(KLHL3):c.1019C>T (p.Ala340Val)	KLHL3 (A340V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 907062	NM_017415.3(KLHL3):c.966C>T (p.Phe322=)	KLHL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2D +1 more	GLikely benign
Select item 350990	NM_017415.3(KLHL3):c.904-5C>T	KLHL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2D +1 more	GBenign/Likely benign
Select item 350991	NM_017415.3(KLHL3):c.838C>T (p.Leu280=)	KLHL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2D +2 more	GBenign/Likely benign
Select item 30519	NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter)	KLHL3 (R240* +2 more)	Single nucleotide variant (nonsense)	Pseudohypoaldosteronism type 2D +1 more	GPathogenic
Select item 721725	NM_017415.3(KLHL3):c.606C>T (p.Ser202=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign