ClinVar for Gene (Select 6337) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382271	NM_001038.6(SCNN1A):c.799_800del (p.Leu267fs)	SCNN1A (L267fs +2 more)	Microsatellite (frameshift variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive	GLikely pathogenic
Select item 3366612	NM_001038.6(SCNN1A):c.1109G>A (p.Arg370Gln)	SCNN1A (R370Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358510	NM_001038.6(SCNN1A):c.-54-40T>C	SCNN1A	Single nucleotide variant (synonymous variant +1 more)	SCNN1A-related disorder	GLikely benign
Select item 3338298	NM_001038.6(SCNN1A):c.552_553insT (p.Pro185fs)	SCNN1A (P185fs +2 more)	Insertion (frameshift variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive	GPathogenic
Select item 3316641	NM_001038.6(SCNN1A):c.1345A>C (p.Lys449Gln)	SCNN1A (K449Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316639	NM_001038.6(SCNN1A):c.1527G>T (p.Gln509His)	SCNN1A (Q509H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316638	NM_001038.6(SCNN1A):c.1010A>G (p.Asn337Ser)	SCNN1A (N360S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316637	NM_001038.6(SCNN1A):c.481C>A (p.Leu161Met)	SCNN1A (L184M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316636	NM_001038.6(SCNN1A):c.484T>C (p.Tyr162His)	SCNN1A (Y162H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244361	NC_000012.11:g.(?_6457039)_(6483949_?)dup	SCNN1A	Duplication	not provided	GUncertain significance
Select item 3244331	NC_000012.11:g.(?_6438478)_(6950528_?)dup	ACRBP, CD27 +23 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 3242419	NM_001038.6(SCNN1A):c.1486G>A (p.Val496Met)	SCNN1A (V496M +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1	GUncertain significance
Select item 3158593	NM_001038.6(SCNN1A):c.337C>G (p.Pro113Ala)	SCNN1A (P113A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158592	NM_001038.6(SCNN1A):c.1859A>G (p.His620Arg)	SCNN1A (H679R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158591	NM_001038.6(SCNN1A):c.1697T>C (p.Val566Ala)	SCNN1A (V625A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158590	NM_001038.6(SCNN1A):c.1312C>T (p.Arg438Trp)	SCNN1A (R438W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158589	NM_001038.6(SCNN1A):c.1183A>G (p.Thr395Ala)	SCNN1A (T395A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158587	NM_001038.6(SCNN1A):c.1108C>T (p.Arg370Trp)	SCNN1A (R429W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3061103	NM_001038.6(SCNN1A):c.875+3_875+6del	SCNN1A	Deletion (splice donor variant)	SCNN1A-related disorder	GLikely pathogenic
Select item 3050527	NM_001038.6(SCNN1A):c.*3G>A	SCNN1A	Single nucleotide variant (3 prime UTR variant)	SCNN1A-related disorder	GLikely benign
Select item 3024263	NM_001038.6(SCNN1A):c.1361-3C>G	SCNN1A	Single nucleotide variant (intron variant)	Liddle syndrome 3 +2 more	GPathogenic
Select item 3020926	NM_001038.6(SCNN1A):c.684+12dup	SCNN1A	Duplication (intron variant)	not provided	GBenign
Select item 3004502	NM_001038.6(SCNN1A):c.516C>T (p.Ala172=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997700	NM_001038.6(SCNN1A):c.1870C>T (p.Leu624=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968499	NM_001038.6(SCNN1A):c.1872G>A (p.Leu624=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959073	NM_001038.6(SCNN1A):c.1242+20C>T	SCNN1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915186	NM_001038.6(SCNN1A):c.567_568delinsTT (p.Gln189_Arg190delinsHisCys)	SCNN1A	Indel (missense variant)	not provided	GUncertain significance
Select item 2897418	NM_001038.6(SCNN1A):c.1144-9G>T	SCNN1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891278	NM_001038.6(SCNN1A):c.318C>T (p.Phe106=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889151	NM_001038.6(SCNN1A):c.306C>T (p.Phe102=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799711	NM_001038.6(SCNN1A):c.1148C>T (p.Thr383Ile)	SCNN1A (T406I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793897	NM_001038.6(SCNN1A):c.1966T>C (p.Ser656Pro)	SCNN1A (S656P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735799	NM_001038.6(SCNN1A):c.1305del (p.Tyr436fs)	SCNN1A (Y495fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2705633	NM_001038.6(SCNN1A):c.2004G>C (p.Gly668=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2683184	NM_001038.6(SCNN1A):c.652GACTGGAAG[1] (p.218DWK[1])	SCNN1A	Microsatellite (inframe deletion)	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2664769	NM_001038.6(SCNN1A):c.1629G>A (p.Thr543=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2	GUncertain significance
Select item 2663204	NM_001038.6(SCNN1A):c.1828G>A (p.Ala610Thr)	SCNN1A (A610T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662783	NM_001038.6(SCNN1A):c.676T>C (p.Phe226Leu)	SCNN1A (F226L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642615	NM_001038.6(SCNN1A):c.131A>C (p.Glu44Ala)	SCNN1A (E103A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642614	NM_001038.6(SCNN1A):c.1106T>G (p.Leu369Trp)	SCNN1A (L369W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631993	NM_001038.6(SCNN1A):c.508C>G (p.Leu170Val)	SCNN1A (L170V +2 more)	Single nucleotide variant (missense variant)	SCNN1A-related disorder	GUncertain significance
Select item 2630786	NM_001038.6(SCNN1A):c.607G>T (p.Ala203Ser)	SCNN1A (A203S +2 more)	Single nucleotide variant (missense variant)	SCNN1A-related disorder	GUncertain significance
Select item 2627499	NM_001038.6(SCNN1A):c.1481C>T (p.Pro494Leu)	SCNN1A (P494L +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +1 more	GUncertain significance
Select item 2603120	NM_001038.6(SCNN1A):c.1168G>A (p.Asp390Asn)	SCNN1A (D390N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2596965	NM_001038.6(SCNN1A):c.1757G>A (p.Arg586Gln)	SCNN1A (R586Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575226	NM_001038.6(SCNN1A):c.133G>C (p.Glu45Gln)	SCNN1A (E104Q +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2	GUncertain significance
Select item 2572577	NM_001038.6(SCNN1A):c.398G>A (p.Cys133Tyr)	SCNN1A (C133Y +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive	GUncertain significance
Select item 2559601	NM_001038.6(SCNN1A):c.1298A>G (p.Tyr433Cys)	SCNN1A (Y433C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551582	NM_001038.6(SCNN1A):c.1582T>C (p.Phe528Leu)	SCNN1A (F587L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534918	NM_001038.6(SCNN1A):c.8G>A (p.Gly3Glu)	SCNN1A (G62E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517836	NM_001038.6(SCNN1A):c.418T>G (p.Tyr140Asp)	SCNN1A (Y163D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502034	NM_001038.6(SCNN1A):c.937_938delinsTC (p.Asn313Ser)	SCNN1A (N313S +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2500734	NM_001038.6(SCNN1A):c.148del (p.Glu50fs)	SCNN1A (E109fs +2 more)	Deletion (frameshift variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive	GPathogenic
Select item 2493373	NM_001038.6(SCNN1A):c.1866G>A (p.Met622Ile)	SCNN1A (M645I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485357	NM_001038.6(SCNN1A):c.470C>T (p.Thr157Met)	SCNN1A (T180M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478449	NM_001038.6(SCNN1A):c.2005C>G (p.Pro669Ala)	SCNN1A (P728A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476769	NM_001038.6(SCNN1A):c.214A>G (p.Ile72Val)	SCNN1A (I72V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461802	NM_001038.6(SCNN1A):c.92T>C (p.Leu31Pro)	SCNN1A (L31P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2435775	NM_001038.6(SCNN1A):c.1049G>A (p.Arg350Gln)	SCNN1A (R350Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435774	NM_001038.6(SCNN1A):c.1222C>T (p.Pro408Ser)	SCNN1A (P408S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2410724	NM_001038.6(SCNN1A):c.1576A>G (p.Ile526Val)	SCNN1A (I549V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392059	NM_001038.6(SCNN1A):c.272G>T (p.Trp91Leu)	SCNN1A (W114L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366530	NM_001038.6(SCNN1A):c.158G>A (p.Arg53His)	SCNN1A (R112H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349602	NM_001038.6(SCNN1A):c.758G>A (p.Arg253His)	SCNN1A (R312H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338611	NM_001038.6(SCNN1A):c.631C>T (p.Arg211Trp)	SCNN1A (R211W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320303	NM_001038.6(SCNN1A):c.89G>A (p.Gly30Glu)	SCNN1A (G89E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305824	NM_001038.6(SCNN1A):c.476T>A (p.Phe159Tyr)	SCNN1A (F182Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298263	NM_001038.6(SCNN1A):c.1858C>G (p.His620Asp)	SCNN1A (H620D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269810	NM_001038.6(SCNN1A):c.1810G>A (p.Glu604Lys)	SCNN1A (E604K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265273	NM_001038.6(SCNN1A):c.440T>G (p.Leu147Arg)	SCNN1A (L170R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261025	NM_001038.6(SCNN1A):c.1540G>A (p.Val514Ile)	SCNN1A (V514I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2244786	NM_001038.6(SCNN1A):c.835A>C (p.Ile279Leu)	SCNN1A (I279L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234484	NM_001038.6(SCNN1A):c.1568A>G (p.Lys523Arg)	SCNN1A (K546R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229252	NM_001038.6(SCNN1A):c.1733T>C (p.Val578Ala)	SCNN1A (V601A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206584	NM_001038.6(SCNN1A):c.1949G>A (p.Arg650His)	SCNN1A (R709H +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 2175095	NM_001038.6(SCNN1A):c.805T>C (p.Ser269Pro)	SCNN1A (S292P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168610	NM_001038.6(SCNN1A):c.1361G>T (p.Gly454Val)	SCNN1A (G513V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167813	NM_001038.6(SCNN1A):c.999C>T (p.Arg333=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166530	NM_001038.6(SCNN1A):c.778C>T (p.Leu260=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2154193	NM_001038.6(SCNN1A):c.546G>T (p.Gly182=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137293	NM_001038.6(SCNN1A):c.166C>T (p.Arg56Ter)	SCNN1A (R56* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2086043	NM_001038.6(SCNN1A):c.1361-6C>G	SCNN1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2079104	NM_001038.6(SCNN1A):c.1539C>T (p.Thr513=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078618	NM_001038.6(SCNN1A):c.210C>T (p.Gly70=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075698	NM_001038.6(SCNN1A):c.192C>T (p.Asn64=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056764	NM_001038.6(SCNN1A):c.1772G>A (p.Arg591Gln)	SCNN1A (R591Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2022659	NM_001038.6(SCNN1A):c.980-7C>T	SCNN1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990801	NM_001038.6(SCNN1A):c.1497+19A>T	SCNN1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990180	NM_001038.6(SCNN1A):c.1518A>G (p.Leu506=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989422	NM_001038.6(SCNN1A):c.875+15C>T	SCNN1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988711	NM_001038.6(SCNN1A):c.1630-20A>G	SCNN1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987215	NM_001038.6(SCNN1A):c.1242+19C>T	SCNN1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1982467	NM_001038.6(SCNN1A):c.1998G>C (p.Leu666=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959093	NM_001038.6(SCNN1A):c.452A>G (p.Asp151Gly)	SCNN1A (D151G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953437	NM_001038.6(SCNN1A):c.128C>T (p.Ala43Val)	SCNN1A (A102V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1930324	NM_001038.6(SCNN1A):c.1629+3A>G	SCNN1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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