ClinVar for MedGen (Select 483335) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235152	NM_017415.3(KLHL3):c.1554_1570dup (p.Asn524delinsSerLysTrpGlnThrTer)	KLHL3	Duplication (nonsense)	Pseudohypoaldosteronism type 2D	GPathogenic
Select item 2689317	NM_017415.3(KLHL3):c.977G>A (p.Arg326Gln)	KLHL3 (R244Q +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 2442206	NM_017415.3(KLHL3):c.1084C>T (p.Arg362Trp)	KLHL3 (R280W +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
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 1295516	NM_017415.3(KLHL3):c.526+21T>A	KLHL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2D +1 more	GBenign
Select item 1251306	NM_017415.3(KLHL3):c.904-21C>T	KLHL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177423	NM_017415.3(KLHL3):c.1000C>T (p.Pro334Ser)	KLHL3 (P252S +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D	GLikely pathogenic
Select item 907989	NM_017415.3(KLHL3):c.*2886A>G	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 907988	NM_017415.3(KLHL3):c.*2941G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 907987	NM_017415.3(KLHL3):c.*2991T>C	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 907986	NM_017415.3(KLHL3):c.*3051G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 907917	NM_017415.3(KLHL3):c.*4438C>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 907119	NM_017415.3(KLHL3):c.-286C>G	KLHL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2D	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 907061	NM_017415.3(KLHL3):c.1220-12C>T	KLHL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2D	GLikely benign
Select item 907060	NM_017415.3(KLHL3):c.1289G>A (p.Arg430Gln)	KLHL3 (R430Q +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 907006	NM_017415.3(KLHL3):c.*1124T>C	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 907005	NM_017415.3(KLHL3):c.*1128A>C	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 906116	NM_017415.3(KLHL3):c.153C>T (p.Asp51=)	KLHL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2D	GBenign
Select item 906115	NM_017415.3(KLHL3):c.406C>T (p.Arg136Trp)	KLHL3 (R54W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 906114	NM_017415.3(KLHL3):c.420T>C (p.Cys140=)	KLHL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 906113	NM_017415.3(KLHL3):c.526+14G>A	KLHL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2D	GBenign
Select item 906052	NM_017415.3(KLHL3):c.1327C>T (p.Leu443=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 906051	NM_017415.3(KLHL3):c.1570A>C (p.Asn524His)	KLHL3 (N492H +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 906050	NM_017415.3(KLHL3):c.1603G>A (p.Val535Ile)	KLHL3 (V453I +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 905982	NM_017415.3(KLHL3):c.*1846C>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 905981	NM_017415.3(KLHL3):c.*1919C>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 905919	NM_017415.3(KLHL3):c.*3206A>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 905918	NM_017415.3(KLHL3):c.*3244G>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GBenign
Select item 905917	NM_017415.3(KLHL3):c.*3410T>G	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 905543	NM_017415.3(KLHL3):c.1725G>A (p.Arg575=)	KLHL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 905542	NM_017415.3(KLHL3):c.*174C>G	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 905468	NM_017415.3(KLHL3):c.*2088C>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 905467	NM_017415.3(KLHL3):c.*2337A>G	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 905404	NM_017415.3(KLHL3):c.*3698G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GBenign
Select item 905403	NM_017415.3(KLHL3):c.*3913A>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 905402	NM_017415.3(KLHL3):c.*4080C>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 905401	NM_017415.3(KLHL3):c.*4166T>C	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 904752	NM_017415.3(KLHL3):c.*681C>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 904751	NM_017415.3(KLHL3):c.*953A>G	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 904677	NM_017415.3(KLHL3):c.*2647C>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 904676	NM_017415.3(KLHL3):c.*2692C>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 904614	NM_017415.3(KLHL3):c.*4185G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 904613	NM_017415.3(KLHL3):c.*4202G>C	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 904612	NM_017415.3(KLHL3):c.*4421C>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D	GBenign
Select item 903760	NM_017415.3(KLHL3):c.-375C>T	KLHL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2D	GBenign
Select item 903680	NM_017415.3(KLHL3):c.627A>G (p.Ser209=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 903678	NM_017415.3(KLHL3):c.730T>C (p.Leu244=)	KLHL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2D	GUncertain significance
Select item 721725	NM_017415.3(KLHL3):c.606C>T (p.Ser202=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 634612	NM_017415.3(KLHL3):c.1694C>T (p.Thr565Met)	KLHL3 (T565M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 351004	NM_017415.3(KLHL3):c.-402C>T	KLHL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 351003	NM_017415.3(KLHL3):c.-352G>A	KLHL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 351002	NM_017415.3(KLHL3):c.-344G>T	KLHL3	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +2 more	GUncertain significance
Select item 351001	NM_017415.3(KLHL3):c.-337A>G	KLHL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 351000	NM_017415.3(KLHL3):c.-303G>C	KLHL3	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GConflicting classifications of pathogenicity
Select item 350999	NM_017415.3(KLHL3):c.-275G>C	KLHL3	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 350998	NM_017415.3(KLHL3):c.-256T>A	KLHL3	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign/Likely benign
Select item 350997	NM_017415.3(KLHL3):c.-170T>C	KLHL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 350996	NM_017415.3(KLHL3):c.14+11A>T	KLHL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 350993	NM_017415.3(KLHL3):c.756G>A (p.Thr252=)	KLHL3	Single nucleotide variant (synonymous variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GConflicting classifications of pathogenicity
Select item 350992	NM_017415.3(KLHL3):c.770C>G (p.Ala257Gly)	KLHL3 (A257G +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
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 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 350989	NM_017415.3(KLHL3):c.1021+5G>A	KLHL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2D +2 more	GConflicting classifications of pathogenicity
Select item 350988	NM_017415.3(KLHL3):c.1118A>G (p.Gln373Arg)	KLHL3 (Q373R +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
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 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 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 350984	NM_017415.3(KLHL3):c.1518C>T (p.Ser506=)	KLHL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2D +2 more	GBenign/Likely benign
Select item 350983	NM_017415.3(KLHL3):c.*39G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GConflicting classifications of pathogenicity
Select item 350982	NM_017415.3(KLHL3):c.*108G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GBenign/Likely benign
Select item 350981	NM_017415.3(KLHL3):c.*141C>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GConflicting classifications of pathogenicity
Select item 350980	NM_017415.3(KLHL3):c.*149G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 350979	NM_017415.3(KLHL3):c.*224G>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GConflicting classifications of pathogenicity
Select item 350978	NM_017415.3(KLHL3):c.*299G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GConflicting classifications of pathogenicity
Select item 350975	NM_017415.3(KLHL3):c.*481G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 350974	NM_017415.3(KLHL3):c.*501T>C	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 350973	NM_017415.3(KLHL3):c.*539G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 350971	NM_017415.3(KLHL3):c.*748T>C	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 350970	NM_017415.3(KLHL3):c.*790G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GConflicting classifications of pathogenicity
Select item 350969	NM_017415.3(KLHL3):c.*1034C>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 350968	NM_017415.3(KLHL3):c.*1055A>G	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 350967	NM_017415.3(KLHL3):c.*1104G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign
Select item 350966	NM_017415.3(KLHL3):c.*1106G>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign/Likely benign
Select item 350965	NM_017415.3(KLHL3):c.*1310C>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign
Select item 350964	NM_017415.3(KLHL3):c.*1434T>G	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 350963	NM_017415.3(KLHL3):c.*1451A>G	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +2 more	GBenign/Likely benign
Select item 350962	NM_017415.3(KLHL3):c.*1583C>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GConflicting classifications of pathogenicity
Select item 350961	NM_017415.3(KLHL3):c.*1651C>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GConflicting classifications of pathogenicity
Select item 350960	NM_017415.3(KLHL3):c.*1657G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 350959	NM_017415.3(KLHL3):c.*1896T>G	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign/Likely benign
Select item 350958	NM_017415.3(KLHL3):c.*1916G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 350957	NM_017415.3(KLHL3):c.*2023G>C	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GUncertain significance
Select item 350956	NM_017415.3(KLHL3):c.*2080A>C	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GBenign
Select item 350955	NM_017415.3(KLHL3):c.*2156A>G	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 350954	NM_017415.3(KLHL3):c.*2168T>C	KLHL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +2 more	GUncertain significance
Select item 350953	NM_017415.3(KLHL3):c.*2248C>T	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GBenign/Likely benign
Select item 350952	NM_017415.3(KLHL3):c.*2267T>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GBenign/Likely benign
Select item 350951	NM_017415.3(KLHL3):c.*2360G>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +1 more	GConflicting classifications of pathogenicity
Select item 350950	NM_017415.3(KLHL3):c.*2404C>A	KLHL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2D +2 more	GBenign

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