4306[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC112935978, LOC112935979 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	IRF2, IRF2-DT +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	AADAT, ABCE1 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993128, LOC129993129 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	AADAT, ABCE1 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	AADAT, ABCE1 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	LOC105377458, LOC105377468 +123 more	Copy number loss	See cases	GPathogenic
Select item 153878	GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1	ABCE1, ANAPC10 +111 more	Copy number loss	See cases	GLikely pathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC121725196, LOC123480937 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC129993221, LOC129993222 +481 more	Copy number gain	See cases	GPathogenic
Select item 1707449	Single allele	ARHGAP10, EDNRA +21 more	Duplication	not specified	GUncertain significance
Select item 152886	GRCh38/hg38 4q31.23(chr4:147920951-148356485)x1	ARHGAP10, LOC110121259 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 369437	NC_000004.12:g.148078763G>A	NR3C2	Single nucleotide variant	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 347673	NM_000901.5(NR3C2):c.*2471G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign
Select item 347674	NM_000901.5(NR3C2):c.*2410T>C	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign
Select item 347675	NM_000901.5(NR3C2):c.*2388T>C	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GBenign
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 347676	NM_000901.5(NR3C2):c.*2368C>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347677	NM_000901.5(NR3C2):c.*2354T>C	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347678	NM_000901.5(NR3C2):c.*2345T>C	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 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 347679	NM_000901.5(NR3C2):c.*2088G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GBenign
Select item 347680	NM_000901.5(NR3C2):c.*2065A>C	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GBenign
Select item 347681	NM_000901.5(NR3C2):c.1905_1907dup	NR3C2	Duplication (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347682	NM_000901.5(NR3C2):c.*1836ATTA[1]	NR3C2	Microsatellite (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 347683	NM_000901.5(NR3C2):c.*1802G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GBenign
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 347684	NM_000901.5(NR3C2):c.*1774A>G	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347685	NM_000901.5(NR3C2):c.*1758A>G	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347686	NM_000901.5(NR3C2):c.1726_1729dup	NR3C2	Duplication (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 347687	NM_000901.5(NR3C2):c.*1667TTTG[1]	NR3C2	Microsatellite (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 347688	NM_000901.5(NR3C2):c.1541_1544dup	NR3C2	Duplication (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 347689	NM_000901.5(NR3C2):c.*1508A>G	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GBenign
Select item 347691	NM_000901.5(NR3C2):c.*1493C>T	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347690	NM_000901.5(NR3C2):c.*1493del	NR3C2	Deletion (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 347692	NM_000901.5(NR3C2):c.*1475T>G	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 347693	NM_000901.5(NR3C2):c.*1465G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347694	NM_000901.5(NR3C2):c.*1452C>T	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 347695	NM_000901.5(NR3C2):c.*1410A>G	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 347696	NM_000901.5(NR3C2):c.*1406A>T	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347697	NM_000901.5(NR3C2):c.*1365G>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 347698	NM_000901.5(NR3C2):c.*1327C>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347699	NM_000901.5(NR3C2):c.*1307C>G	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
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 347700	NM_000901.5(NR3C2):c.*1209G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GBenign
Select item 347701	NM_000901.5(NR3C2):c.*1206G>C	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 347702	NM_000901.5(NR3C2):c.*1165C>T	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GBenign
Select item 347703	NM_000901.5(NR3C2):c.*1121T>C	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GBenign
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 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 347705	NM_000901.5(NR3C2):c.*1032G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign
Select item 347704	NM_000901.5(NR3C2):c.*1032G>C	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 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 347706	NM_000901.5(NR3C2):c.*890T>G	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GBenign
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 347707	NM_000901.5(NR3C2):c.*804G>T	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 347708	NM_000901.5(NR3C2):c.*755A>C	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign
Select item 347709	NM_000901.5(NR3C2):c.*592G>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 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 347710	NM_000901.5(NR3C2):c.474_475insTAA	NR3C2	Insertion (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347711	NM_000901.5(NR3C2):c.442_444del	NR3C2	Deletion (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347712	NM_000901.5(NR3C2):c.*416T>C	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347713	NM_000901.5(NR3C2):c.*412C>T	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign
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 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 347714	NM_000901.5(NR3C2):c.*325G>A	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 347715	NM_000901.5(NR3C2):c.*324C>T	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 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 347716	NM_000901.5(NR3C2):c.*86T>C	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign
Select item 903275	NM_000901.5(NR3C2):c.*7G>A	NR3C2	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 347717	NM_000901.5(NR3C2):c.*6C>T	NR3C2	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 3590181	NM_000901.5(NR3C2):c.2944C>T (p.His982Tyr)	NR3C2 (H865Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 8565	NM_000901.5(NR3C2):c.2936T>C (p.Leu979Pro)	NR3C2 (L979P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GPathogenic
Select item 2903639	NM_000901.5(NR3C2):c.2933C>T (p.Pro978Leu)	NR3C2 (P978L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2323038	NM_000901.5(NR3C2):c.2932C>A (p.Pro978Thr)	NR3C2 (P978T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 8572	NM_000901.5(NR3C2):c.2915A>G (p.Glu972Gly)	NR3C2 (E972G +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GPathogenic
Select item 3590182	NM_000901.5(NR3C2):c.2911G>A (p.Val971Met)	NR3C2 (V854M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 3590183	NM_000901.5(NR3C2):c.2909A>T (p.Lys970Met)	NR3C2 (K970M +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 817133	NM_000901.5(NR3C2):c.2903dup (p.Pro969fs)	NR3C2 (P852fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3607211	NM_000901.5(NR3C2):c.2895C>T (p.Ser965=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997355	NM_000901.5(NR3C2):c.2889C>T (p.Ile963=)	NR3C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 8558	NM_000901.5(NR3C2):c.2871dup (p.Ala958fs)	NR3C2 (A841fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GPathogenic
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 3899091	NM_000901.5(NR3C2):c.2866T>A (p.Phe956Ile)	NR3C2 (F839I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3897570	NM_000901.5(NR3C2):c.2860del (p.Lys953_Val954insTer)	NR3C2	Deletion (nonsense +1 more)	Autism spectrum disorder	GPathogenic
Select item 2852784	NM_000901.5(NR3C2):c.2860G>A (p.Val954Ile)	NR3C2 (V837I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3652567	NM_000901.5(NR3C2):c.2843_2844del (p.Glu948fs)	NR3C2 (E831fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2086384	NM_000901.5(NR3C2):c.2842G>A (p.Glu948Lys)	NR3C2 (E948K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 8567	NM_000901.5(NR3C2):c.2839C>T (p.Arg947Ter)	NR3C2 (R947* +1 more)	Single nucleotide variant (nonsense +1 more)	Pseudohyperaldosteronism type 2 +1 more	GPathogenic
Select item 347718	NM_000901.5(NR3C2):c.2809G>A (p.Asp937Asn)	NR3C2 (D937N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1 +2 more	GUncertain significance

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