ClinVar for MedGen (Select 260623) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2686051	NM_000901.5(NR3C2):c.2438C>T (p.Ala813Val)	NR3C2 (A696V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 2573008	NM_000901.5(NR3C2):c.1350del (p.Pro451fs)	NR3C2 (P451fs)	Deletion (frameshift variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 1809717	NM_000901.5(NR3C2):c.2194C>T (p.Arg732Ter)	NR3C2 (R732*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GPathogenic
Select item 1709131	NM_000901.5(NR3C2):c.2657T>A (p.Leu886His)	NR3C2 (L769H +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 1699293	NM_000901.5(NR3C2):c.56G>A (p.Trp19Ter)	NR3C2 (W19*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 1697205	NC_000004.11:g.(?_149081621)_(151082561_?)del	DCLK2, NR3C2	Deletion	Autosomal dominant pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 1678530	NM_000901.5(NR3C2):c.1819delinsTT (p.Gly607fs)	NR3C2 (G607fs)	Indel (frameshift variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GPathogenic
Select item 1342478	NM_000901.5(NR3C2):c.102del (p.Glu35fs)	NR3C2 (E35fs)	Deletion (frameshift variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 1339260	NM_000901.5(NR3C2):c.1799C>A (p.Ser600Ter)	NR3C2 (S600*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 1272334	NM_000901.5(NR3C2):c.1898-22T>C	NR3C2	Single nucleotide variant (intron variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign
Select item 1065468	NM_000901.5(NR3C2):c.2767C>T (p.Gln923Ter)	NR3C2 (Q806* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 989337	NM_000901.5(NR3C2):c.2840G>C (p.Arg947Pro)	NR3C2 (R830P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 932920	NM_000901.5(NR3C2):c.1172A>G (p.Gln391Arg)	NR3C2 (Q391R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 903412	NM_000901.5(NR3C2):c.-243G>T	LOC129993215, NR3C2	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 903411	NM_000901.5(NR3C2):c.-238C>T	LOC129993215, NR3C2	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 903350	NM_000901.5(NR3C2):c.1272A>G (p.Ser424=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 903349	NM_000901.5(NR3C2):c.1380T>A (p.Phe460Leu)	NR3C2 (F460L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GConflicting classifications of pathogenicity
Select item 903348	NM_000901.5(NR3C2):c.1513G>A (p.Glu505Lys)	NR3C2 (E505K)	Single nucleotide variant (missense variant +1 more)	Pseudohyperaldosteronism type 2 +1 more	GUncertain significance
Select item 903275	NM_000901.5(NR3C2):c.*7G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 903274	NM_000901.5(NR3C2):c.*90A>G	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 903273	NM_000901.5(NR3C2):c.*124G>C	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 903272	NM_000901.5(NR3C2):c.*356A>G	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 903271	NM_000901.5(NR3C2):c.*379G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 903209	NM_000901.5(NR3C2):c.*1471A>G	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 903208	NM_000901.5(NR3C2):c.*1491G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 902561	NM_000901.5(NR3C2):c.-5C>A	NR3C2	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 902560	NM_000901.5(NR3C2):c.100A>G (p.Thr34Ala)	NR3C2 (T34A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 902488	NM_000901.5(NR3C2):c.1686A>C (p.Ser562=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 902487	NM_000901.5(NR3C2):c.1757+6T>C	NR3C2	Single nucleotide variant (intron variant)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 902417	NM_000901.5(NR3C2):c.*519G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 902416	NM_000901.5(NR3C2):c.*586G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 902415	NM_000901.5(NR3C2):c.*813G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 902342	NM_000901.5(NR3C2):c.*1797A>G	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 900828	NM_000901.5(NR3C2):c.215C>G (p.Pro72Arg)	NR3C2 (P72R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 900827	NM_000901.5(NR3C2):c.218G>A (p.Cys73Tyr)	NR3C2 (C73Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 900826	NM_000901.5(NR3C2):c.334G>C (p.Val112Leu)	NR3C2 (V112L)	Single nucleotide variant (missense variant +1 more)	Pseudohyperaldosteronism type 2 +1 more	GUncertain significance
Select item 900825	NM_000901.5(NR3C2):c.405G>C (p.Gln135His)	NR3C2 (Q135H)	Single nucleotide variant (missense variant +1 more)	Pseudohyperaldosteronism type 2 +1 more	GBenign/Likely benign
Select item 900749	NM_000901.5(NR3C2):c.2055C>A (p.His685Gln)	NR3C2 (H685Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 900748	NM_000901.5(NR3C2):c.2091A>C (p.Pro697=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GBenign
Select item 900747	NM_000901.5(NR3C2):c.2097A>C (p.Pro699=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GBenign
Select item 900673	NM_000901.5(NR3C2):c.*924C>T	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 900672	NM_000901.5(NR3C2):c.*1019C>G	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 900671	NM_000901.5(NR3C2):c.*1088C>T	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 900670	NM_000901.5(NR3C2):c.*1110C>G	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 900605	NM_000901.5(NR3C2):c.*2289T>G	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 900604	NM_000901.5(NR3C2):c.*2296T>C	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 900603	NM_000901.5(NR3C2):c.*2384T>C	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 899687	NM_000901.5(NR3C2):c.822C>A (p.Ser274Arg)	NR3C2 (S274R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 899686	NM_000901.5(NR3C2):c.934A>G (p.Ser312Gly)	NR3C2 (S312G)	Single nucleotide variant (missense variant +1 more)	Pseudohyperaldosteronism type 2 +1 more	GUncertain significance
Select item 899685	NM_000901.5(NR3C2):c.1055C>A (p.Ser352Tyr)	NR3C2 (S352Y)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 899684	NM_000901.5(NR3C2):c.1090A>T (p.Thr364Ser)	NR3C2 (T364S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 899615	NM_000901.5(NR3C2):c.2334C>T (p.Ile778=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 899614	NM_000901.5(NR3C2):c.2745G>A (p.Gly915=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 899613	NM_000901.5(NR3C2):c.2871C>T (p.Pro957=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 899537	NM_000901.5(NR3C2):c.*1290G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 899536	NM_000901.5(NR3C2):c.*1352G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 899470	NM_000901.5(NR3C2):c.*2578T>G	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 781734	NM_000901.5(NR3C2):c.1331A>C (p.Asn444Thr)	NR3C2 (N444T)	Single nucleotide variant (missense variant +1 more)	NR3C2-related disorder +2 more	GBenign
Select item 776021	NM_000901.5(NR3C2):c.1898-4T>C	NR3C2	Single nucleotide variant (intron variant)	Pseudohyperaldosteronism type 2 +2 more	GBenign/Likely benign
Select item 764102	NM_000901.5(NR3C2):c.1824T>C (p.Asp608=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 710955	NM_000901.5(NR3C2):c.767A>G (p.Asn256Ser)	NR3C2 (N256S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 623478	NM_000901.5(NR3C2):c.2657T>G (p.Leu886Arg)	NR3C2 (L886R +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 623200	NM_000901.5(NR3C2):c.2755C>T (p.Gln919Ter)	NR3C2 (Q919* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 559557	NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys)	CUL3 (Y58C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 522499	NM_000901.5(NR3C2):c.2096del (p.Pro699fs)	NR3C2 (P699fs)	Deletion (frameshift variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 430357	NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter)	NR3C2 (R651*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +3 more	GPathogenic/Likely pathogenic
Select item 369437	NM_000901.4(NR3C2):c.*2581C>T	NR3C2	Single nucleotide variant	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
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)	Pseudohypoaldosteronism type 2D +1 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)	Autosomal dominant pseudohypoaldosteronism type 1 +1 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)	not provided +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)	Autosomal dominant pseudohypoaldosteronism type 1 +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)	not provided +2 more	GLikely benign
Select item 350986	NM_017415.3(KLHL3):c.1401C>A (p.Thr467=)	KLHL3	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +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 350977	NM_017415.3(KLHL3):c.*295GT[11]	KLHL3	Microsatellite (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 350976	NM_017415.3(KLHL3):c.*295GT[12]	KLHL3	Microsatellite (3 prime UTR variant)	not provided +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 350972	NM_017415.3(KLHL3):c.591_594del	KLHL3	Deletion (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1	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

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