ClinVar for MedGen (Select 1824028) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3767335	NM_000336.3(SCNN1B):c.655T>G (p.Tyr219Asp)	SCNN1B (Y219D)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GLikely pathogenic
Select item 3580024	NM_000336.3(SCNN1B):c.1910G>T (p.Gly637Val)	SCNN1B (G601V +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580023	NM_000336.3(SCNN1B):c.1880C>T (p.Pro627Leu)	SCNN1B (P627L +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580022	NM_000336.3(SCNN1B):c.1871G>A (p.Arg624His)	SCNN1B (R624H +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580021	NM_000336.3(SCNN1B):c.1849C>A (p.Pro617Thr)	SCNN1B (P617T +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GLikely pathogenic
Select item 3580020	NM_000336.3(SCNN1B):c.1847dup (p.Pro617fs)	SCNN1B (P581fs +1 more)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 3580019	NM_000336.3(SCNN1B):c.1826C>T (p.Ala609Val)	SCNN1B (A573V +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580018	NM_000336.3(SCNN1B):c.1822C>A (p.Gln608Lys)	SCNN1B (Q608K +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580016	NM_000336.3(SCNN1B):c.1817G>T (p.Ser606Ile)	SCNN1B (S570I +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580015	NM_000336.3(SCNN1B):c.1817G>C (p.Ser606Thr)	SCNN1B (S570T +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580014	NM_000336.3(SCNN1B):c.1795C>T (p.Pro599Ser)	SCNN1B (P563S +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580013	NM_000336.3(SCNN1B):c.1784C>T (p.Ala595Val)	SCNN1B (A559V +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580012	NM_000336.3(SCNN1B):c.1774C>T (p.Pro592Ser)	SCNN1B (P592S +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580011	NM_000336.3(SCNN1B):c.1750G>A (p.Ala584Thr)	SCNN1B (A548T +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580010	NM_000336.3(SCNN1B):c.1736C>G (p.Ala579Gly)	SCNN1B (A543G +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580009	NM_000336.3(SCNN1B):c.1714G>T (p.Ala572Ser)	SCNN1B (A536S +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580008	NM_000336.3(SCNN1B):c.1614C>A (p.Ile538=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580007	NM_000336.3(SCNN1B):c.1566G>C (p.Leu522=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580006	NM_000336.3(SCNN1B):c.1543-6C>T	SCNN1B	Single nucleotide variant (intron variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580005	NM_000336.3(SCNN1B):c.1501G>A (p.Glu501Lys)	SCNN1B (E465K +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580004	NM_000336.3(SCNN1B):c.1492T>G (p.Tyr498Asp)	SCNN1B (Y498D +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580003	NM_000336.3(SCNN1B):c.1475T>A (p.Ile492Asn)	SCNN1B (I492N +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580002	NM_000336.3(SCNN1B):c.1436G>A (p.Arg479Gln)	SCNN1B (R479Q +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580001	NM_000336.3(SCNN1B):c.1369A>G (p.Ile457Val)	SCNN1B (I457V +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3580000	NM_000336.3(SCNN1B):c.1367C>T (p.Thr456Ile)	SCNN1B (T420I +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579999	NM_000336.3(SCNN1B):c.1346+16C>T	SCNN1B	Single nucleotide variant (intron variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579998	NM_000336.3(SCNN1B):c.1312_1315del (p.Glu438fs)	SCNN1B (E402fs +1 more)	Microsatellite (frameshift variant)	Liddle syndrome 1 +2 more	GLikely pathogenic
Select item 3579997	NM_000336.3(SCNN1B):c.1314_1315del (p.Glu438fs)	SCNN1B (E402fs +1 more)	Microsatellite (frameshift variant)	Liddle syndrome 1 +2 more	GLikely pathogenic
Select item 3579996	NM_000336.3(SCNN1B):c.1304C>T (p.Ala435Val)	SCNN1B (A435V +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579995	NM_000336.3(SCNN1B):c.1299C>A (p.Ser433Arg)	SCNN1B (S397R +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579994	NM_000336.3(SCNN1B):c.1286A>G (p.Asp429Gly)	SCNN1B (D393G +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579993	NM_000336.3(SCNN1B):c.1243T>C (p.Cys415Arg)	SCNN1B (C415R +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579992	NM_000336.3(SCNN1B):c.1228del (p.Arg410fs)	SCNN1B (R410fs +1 more)	Deletion (frameshift variant)	Liddle syndrome 1 +2 more	GLikely pathogenic
Select item 3579991	NM_000336.3(SCNN1B):c.1212C>A (p.Tyr404Ter)	SCNN1B (Y368* +1 more)	Single nucleotide variant (nonsense)	Liddle syndrome 1 +2 more	GLikely pathogenic
Select item 3579990	NM_000336.3(SCNN1B):c.1189C>T (p.Arg397Cys)	SCNN1B (R397C +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579989	NM_000336.3(SCNN1B):c.1074C>G (p.Tyr358Ter)	SCNN1B (Y358*)	Single nucleotide variant (nonsense +1 more)	Liddle syndrome 1 +2 more	GLikely pathogenic
Select item 3579988	NM_000336.3(SCNN1B):c.1066G>A (p.Glu356Lys)	SCNN1B (E356K)	Single nucleotide variant (missense variant +1 more)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579987	NM_000336.3(SCNN1B):c.1054C>T (p.Gln352Ter)	SCNN1B (Q352*)	Single nucleotide variant (nonsense +1 more)	Liddle syndrome 1 +2 more	GLikely pathogenic
Select item 3579986	NM_000336.3(SCNN1B):c.1049A>T (p.Lys350Met)	SCNN1B (K350M)	Single nucleotide variant (missense variant +1 more)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579985	NM_000336.3(SCNN1B):c.1049A>G (p.Lys350Arg)	SCNN1B (K350R)	Single nucleotide variant (missense variant +1 more)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579983	NM_000336.3(SCNN1B):c.1044+4T>G	SCNN1B	Single nucleotide variant (intron variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579982	NM_000336.3(SCNN1B):c.1006G>A (p.Ala336Thr)	SCNN1B (A336T)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GUncertain significance
Select item 3579981	NM_000336.3(SCNN1B):c.998G>A (p.Gly333Asp)	SCNN1B (G333D)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579980	NM_000336.3(SCNN1B):c.964G>T (p.Glu322Ter)	SCNN1B (E322*)	Single nucleotide variant (nonsense)	Liddle syndrome 1 +2 more	GLikely pathogenic
Select item 3579979	NM_000336.3(SCNN1B):c.935C>T (p.Ser312Phe)	SCNN1B (S312F)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579978	NM_000336.3(SCNN1B):c.932C>T (p.Ala311Val)	SCNN1B (A311V)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579976	NM_000336.3(SCNN1B):c.866C>G (p.Pro289Arg)	SCNN1B (P289R)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579975	NM_000336.3(SCNN1B):c.815G>A (p.Cys272Tyr)	SCNN1B (C272Y)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579972	NM_000336.3(SCNN1B):c.775C>T (p.Arg259Trp)	SCNN1B (R259W)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579971	NM_000336.3(SCNN1B):c.705A>G (p.Leu235=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579970	NM_000336.3(SCNN1B):c.653G>A (p.Trp218Ter)	SCNN1B (W218*)	Single nucleotide variant (nonsense)	Liddle syndrome 1 +2 more	GLikely pathogenic
Select item 3579969	NM_000336.3(SCNN1B):c.625A>C (p.Thr209Pro)	SCNN1B (T209P)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579968	NM_000336.3(SCNN1B):c.589A>G (p.Ser197Gly)	SCNN1B (S197G)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579966	NM_000336.3(SCNN1B):c.586-6C>A	SCNN1B	Single nucleotide variant (intron variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579965	NM_000336.3(SCNN1B):c.556G>C (p.Ala186Pro)	SCNN1B (A186P)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579964	NM_000336.3(SCNN1B):c.451G>C (p.Val151Leu)	SCNN1B (V151L)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579963	NM_000336.3(SCNN1B):c.448C>G (p.Leu150Val)	SCNN1B (L150V)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579962	NM_000336.3(SCNN1B):c.445C>G (p.Pro149Ala)	SCNN1B (P149A)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579961	NM_000336.3(SCNN1B):c.394A>G (p.Ser132Gly)	SCNN1B (S132G)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579960	NM_000336.3(SCNN1B):c.361G>A (p.Ala121Thr)	SCNN1B (A121T)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579959	NM_000336.3(SCNN1B):c.283G>A (p.Val95Ile)	SCNN1B (V95I)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579958	NM_000336.3(SCNN1B):c.268A>G (p.Met90Val)	SCNN1B (M90V)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579957	NM_000336.3(SCNN1B):c.240C>T (p.Ser80=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579956	NM_000336.3(SCNN1B):c.232G>A (p.Glu78Lys)	SCNN1B (E78K)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579955	NM_000336.3(SCNN1B):c.178G>A (p.Ala60Thr)	SCNN1B (A60T)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579954	NM_000336.3(SCNN1B):c.118C>T (p.Arg40Cys)	SCNN1B (R40C)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579952	NM_000336.3(SCNN1B):c.88T>C (p.Cys30Arg)	SCNN1B (C30R)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579951	NM_000336.3(SCNN1B):c.76C>A (p.Leu26Met)	SCNN1B (L26M)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579950	NM_000336.3(SCNN1B):c.14A>G (p.Lys5Arg)	SCNN1B (K5R)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3579949	NM_000336.3(SCNN1B):c.12G>T (p.Lys4Asn)	SCNN1B (K4N)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 3573477	NM_000336.3(SCNN1B):c.1042G>A (p.Val348Met)	SCNN1B (V348M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3438362	NM_000336.3(SCNN1B):c.1475T>C (p.Ile492Thr)	SCNN1B (I456T +1 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GUncertain significance
Select item 3338256	NM_000336.3(SCNN1B):c.1404+1G>T	SCNN1B	Single nucleotide variant (splice donor variant)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 3316642	NM_000336.3(SCNN1B):c.486G>T (p.Met162Ile)	SCNN1B (M162I)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GUncertain significance
Select item 3025040	NM_000336.3(SCNN1B):c.153G>A (p.Met51Ile)	SCNN1B (M51I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 3022839	NM_000336.3(SCNN1B):c.1466+18C>T	SCNN1B	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3017790	NM_000336.3(SCNN1B):c.1819G>A (p.Glu607Lys)	SCNN1B (E571K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3005901	NM_000336.3(SCNN1B):c.1687C>T (p.Arg563Trp)	SCNN1B (R563W +1 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GUncertain significance
Select item 2990147	NM_000336.3(SCNN1B):c.1831C>G (p.Pro611Ala)	SCNN1B (P575A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2764633	NM_000336.3(SCNN1B):c.1041C>T (p.Leu347=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GLikely benign
Select item 2713037	NM_000336.3(SCNN1B):c.1870C>T (p.Arg624Cys)	SCNN1B (R588C +1 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB2, autosomal recessive +3 more	GUncertain significance
Select item 2712730	NM_000336.3(SCNN1B):c.857C>T (p.Ser286Leu)	SCNN1B (S286L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2701628	NM_000336.3(SCNN1B):c.1642G>A (p.Val548Met)	SCNN1B (V512M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2689929	NM_000336.3(SCNN1B):c.1270+6C>T	SCNN1B	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 2664489	NM_000336.3(SCNN1B):c.1346+1G>A	SCNN1B	Single nucleotide variant (splice donor variant)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 2664488	NM_000336.3(SCNN1B):c.87C>A (p.Tyr29Ter)	SCNN1B (Y29*)	Single nucleotide variant (nonsense)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 2664487	NM_000336.3(SCNN1B):c.1271-1G>C	SCNN1B	Single nucleotide variant (splice acceptor variant)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 2646319	NM_000336.3(SCNN1B):c.943G>A (p.Gly315Arg)	SCNN1B (G315R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2616322	NM_000336.3(SCNN1B):c.1335G>C (p.Lys445Asn)	SCNN1B (K409N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2577438	NM_000336.3(SCNN1B):c.84G>A (p.Trp28Ter)	SCNN1B (W28*)	Single nucleotide variant (nonsense)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 2496210	NM_000336.3(SCNN1B):c.554A>T (p.Asn185Ile)	SCNN1B (N185I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2404764	NM_000336.3(SCNN1B):c.1310G>A (p.Arg437Lys)	SCNN1B (R437K +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2362982	NM_000336.3(SCNN1B):c.1703A>C (p.Gln568Pro)	SCNN1B (Q568P +1 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GUncertain significance
Select item 2354048	NM_000336.3(SCNN1B):c.7G>A (p.Val3Met)	SCNN1B (V3M)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GUncertain significance
Select item 2321462	NM_000336.3(SCNN1B):c.562G>A (p.Gly188Arg)	SCNN1B (G188R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1939558	NM_000336.3(SCNN1B):c.1039C>T (p.Leu347Phe)	SCNN1B (L347F)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +3 more	GUncertain significance
Select item 1686695	NM_000336.3(SCNN1B):c.1838C>T (p.Pro613Leu)	SCNN1B (P613L)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GUncertain significance
Select item 1678510	NM_000336.3(SCNN1B):c.91G>A (p.Asp31Asn)	SCNN1B (D31N)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GUncertain significance
Select item 1343467	NM_000336.3(SCNN1B):c.803A>G (p.His268Arg)	SCNN1B (H268R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1323566	NM_000336.3(SCNN1B):c.648dup (p.Glu217fs)	SCNN1B (E217fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic/Likely pathogenic

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