SCNN1B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 59987	GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3	LOC130058650, LOC130058651 +23 more	Copy number gain	See cases	GUncertain significance
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 1233203	NC_000016.10:g.23301864G>A	SCNN1B	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1678733	NC_000016.10:g.23302174G>A	SCNN1B	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 318400	NM_000336.2(SCNN1B):c.-150C>G	SCNN1B	Single nucleotide variant (genic upstream transcript variant)	Liddle syndrome 1 +2 more	GLikely benign
Select item 1251381	NM_000336.3(SCNN1B):c.-9+238C>G	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261922	NM_000336.3(SCNN1B):c.-9+295T>C	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326456	NM_000336.3(SCNN1B):c.-9+489A>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1678734	NM_000336.3(SCNN1B):c.-9+564G>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1801431	NM_000336.3(SCNN1B):c.-8-15491_-8-15437del	SCNN1B	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1220444	NM_000336.3(SCNN1B):c.-8-73T>C	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 887418	NM_000336.3(SCNN1B):c.6C>T (p.His2=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 2354048	NM_000336.3(SCNN1B):c.7G>A (p.Val3Met)	SCNN1B (V3M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2716725	NM_000336.3(SCNN1B):c.54C>T (p.Pro18=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976055	NM_000336.3(SCNN1B):c.73C>G (p.Leu25Val)	SCNN1B (L25V)	Single nucleotide variant (missense variant)	not provided	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 2664488	NM_000336.3(SCNN1B):c.87C>A (p.Tyr29Ter)	SCNN1B (Y29*)	Single nucleotide variant (nonsense)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 1678510	NM_000336.3(SCNN1B):c.91G>A (p.Asp31Asn)	SCNN1B (D31N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8832	NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser)	SCNN1B (G37S)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 1417002	NM_000336.3(SCNN1B):c.121A>G (p.Ile41Val)	SCNN1B (I41V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789831	NM_000336.3(SCNN1B):c.147A>G (p.Lys49=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +4 more	GBenign/Likely benign
Select item 3025040	NM_000336.3(SCNN1B):c.153G>A (p.Met51Ile)	SCNN1B (M51I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 318418	NM_000336.3(SCNN1B):c.159C>T (p.Phe53=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 740204	NM_000336.3(SCNN1B):c.177C>T (p.Phe59=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GLikely benign
Select item 789832	NM_000336.3(SCNN1B):c.181G>A (p.Ala61Thr)	SCNN1B (A61T)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 995267	NM_000336.3(SCNN1B):c.187G>A (p.Val63Ile)	SCNN1B (V63I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416759	NM_000336.3(SCNN1B):c.219C>A (p.Thr73=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8844	NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)	SCNN1B (S82C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 318419	NM_000336.3(SCNN1B):c.246C>T (p.Ser82=)	SCNN1B	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 2786940	NM_000336.3(SCNN1B):c.270G>A (p.Met90Ile)	SCNN1B (M90I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 493177	NM_000336.3(SCNN1B):c.278C>G (p.Pro93Arg)	SCNN1B (P93R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 165167	NM_000336.3(SCNN1B):c.279T>C (p.Pro93=)	SCNN1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 318420	NM_000336.3(SCNN1B):c.282C>T (p.Ala94=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GBenign/Likely benign
Select item 3158596	NM_000336.3(SCNN1B):c.299C>A (p.Ala100Asp)	SCNN1B (A100D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2976537	NM_000336.3(SCNN1B):c.311+13G>A	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189111	NM_000336.3(SCNN1B):c.311+212T>A	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326461	NM_000336.3(SCNN1B):c.312-207G>A	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286010	NM_000336.3(SCNN1B):c.312-41A>C	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2697478	NM_000336.3(SCNN1B):c.363T>G (p.Ala121=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559037	NM_000336.3(SCNN1B):c.367C>A (p.Leu123Met)	SCNN1B (L123M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443042	NM_000336.3(SCNN1B):c.372G>T (p.Glu124Asp)	SCNN1B (E124D)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1	GUncertain significance
Select item 2285337	NM_000336.3(SCNN1B):c.409A>C (p.Thr137Pro)	SCNN1B (T137P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 318421	NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe)	SCNN1B (S143F)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 3316646	NM_000336.3(SCNN1B):c.439C>A (p.His147Asn)	SCNN1B (H147N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 318422	NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp)	SCNN1B (R156W)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 887470	NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln)	SCNN1B (R156Q)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 2489288	NM_000336.3(SCNN1B):c.471C>A (p.Asn157Lys)	SCNN1B (N157K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316642	NM_000336.3(SCNN1B):c.486G>T (p.Met162Ile)	SCNN1B (M162I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319223	NM_000336.3(SCNN1B):c.511C>T (p.His171Tyr)	SCNN1B (H171Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2365902	NM_000336.3(SCNN1B):c.518G>T (p.Gly173Val)	SCNN1B (G173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 989360	NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn)	SCNN1B (S177N)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 3013182	NM_000336.3(SCNN1B):c.537A>C (p.Ala179=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1341532	NM_000336.3(SCNN1B):c.539C>A (p.Ser180Ter)	SCNN1B (S180*)	Single nucleotide variant (nonsense)	Pseudohypoaldosteronism, type IB1, 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	GUncertain significance
Select item 318423	NM_000336.3(SCNN1B):c.561C>T (p.His187=)	SCNN1B	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 2321462	NM_000336.3(SCNN1B):c.562G>A (p.Gly188Arg)	SCNN1B (G188R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3345984	NM_000336.3(SCNN1B):c.567del (p.Gly188_Cys189insTer)	SCNN1B	Deletion (nonsense)	SCNN1B-related disorder	GLikely pathogenic
Select item 2573782	NM_000336.3(SCNN1B):c.585+3A>C	SCNN1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1190848	NM_000336.3(SCNN1B):c.585+228A>C	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250858	NM_000336.3(SCNN1B):c.586-198G>A	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231773	NM_000336.3(SCNN1B):c.586-157G>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274283	NM_000336.3(SCNN1B):c.586-92C>G	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326460	NM_000336.3(SCNN1B):c.586-89C>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 318424	NM_000336.3(SCNN1B):c.586-15T>C	SCNN1B	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 3065812	NM_000336.3(SCNN1B):c.590G>C (p.Ser197Thr)	SCNN1B (S197T)	Single nucleotide variant (missense variant)	Liddle syndrome 1	GLikely benign
Select item 3316643	NM_000336.3(SCNN1B):c.606G>T (p.Gln202His)	SCNN1B (Q202H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2008481	NM_000336.3(SCNN1B):c.607T>C (p.Cys203Arg)	SCNN1B (C203R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 887661	NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln)	SCNN1B (R206Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 3316645	NM_000336.3(SCNN1B):c.624C>A (p.Phe208Leu)	SCNN1B (F208L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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
Select item 715591	NM_000336.3(SCNN1B):c.657C>T (p.Tyr219=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569839	NM_000336.3(SCNN1B):c.699G>C (p.Gln233His)	SCNN1B (Q233H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3061303	NM_000336.3(SCNN1B):c.720C>A (p.Tyr240Ter)	SCNN1B (Y240*)	Single nucleotide variant (nonsense)	SCNN1B-related disorder	GLikely pathogenic
Select item 2234969	NM_000336.3(SCNN1B):c.724G>A (p.Gly242Ser)	SCNN1B (G242S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1905538	NM_000336.3(SCNN1B):c.731A>G (p.Gln244Arg)	SCNN1B (Q244R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720278	NM_000336.3(SCNN1B):c.738C>T (p.Ile246=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 887662	NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val)	SCNN1B (L250V)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 318425	NM_000336.3(SCNN1B):c.753C>T (p.Phe251=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 2522606	NM_000336.3(SCNN1B):c.754G>A (p.Gly252Arg)	SCNN1B (G252R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2045404	NM_000336.3(SCNN1B):c.776G>A (p.Arg259Gln)	SCNN1B (R259Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629072	NM_000336.3(SCNN1B):c.776+5G>A	SCNN1B	Single nucleotide variant (intron variant)	SCNN1B-related disorder	GUncertain significance
Select item 884508	NM_000336.3(SCNN1B):c.776+9C>A	SCNN1B	Single nucleotide variant (intron variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 1195374	NM_000336.3(SCNN1B):c.776+41C>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283818	NM_000336.3(SCNN1B):c.776+102C>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281688	NM_000336.3(SCNN1B):c.777-311G>A	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219775	NM_000336.3(SCNN1B):c.777-42C>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 227060	NM_000336.3(SCNN1B):c.777-5T>C	SCNN1B	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 2919817	NM_000336.3(SCNN1B):c.786G>A (p.Thr262=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8838	NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu)	SCNN1B (P267L)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GLikely pathogenic
Select item 1343467	NM_000336.3(SCNN1B):c.803A>G (p.His268Arg)	SCNN1B (H268R)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 3233816	NM_000336.3(SCNN1B):c.804C>G (p.His268Gln)	SCNN1B (H268Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 444364	NM_000336.3(SCNN1B):c.833del (p.Gly278fs)	SCNN1B (G278fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3158597	NM_000336.3(SCNN1B):c.836T>C (p.Met279Thr)	SCNN1B (M279T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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