10602[HGNC] - 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 1283927	NM_001039.4(SCNN1G):c.-44-247C>T	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1699900	NM_001039.4(SCNN1G):c.-44-244_-44-236del	SCNN1G	Deletion (intron variant)	not provided	GLikely benign
Select item 1699901	NM_001039.4(SCNN1G):c.-44-233_-44-231del	SCNN1G	Deletion (intron variant)	not provided	GLikely benign
Select item 318343	NM_001039.4(SCNN1G):c.-44-4C>G	SCNN1G	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GBenign
Select item 318344	NM_001039.4(SCNN1G):c.-31A>G	SCNN1G	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 318345	NM_001039.4(SCNN1G):c.-23G>A	SCNN1G	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 2986564	NM_001039.4(SCNN1G):c.45G>T (p.Leu15=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 885119	NM_001039.4(SCNN1G):c.48C>T (p.Pro16=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 2878213	NM_001039.4(SCNN1G):c.132C>G (p.Ile44Met)	SCNN1G (I44M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 886034	NM_001039.4(SCNN1G):c.132C>T (p.Ile44=)	SCNN1G	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 804476	NM_001039.4(SCNN1G):c.142dup (p.Arg48fs)	SCNN1G (R48fs)	Duplication (frameshift variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GLikely pathogenic
Select item 280615	NM_001039.4(SCNN1G):c.146_149dup (p.Leu51fs)	SCNN1G (L51fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 730497	NM_001039.4(SCNN1G):c.159C>T (p.Arg53=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443054	NM_001039.4(SCNN1G):c.201C>G (p.Ile67Met)	SCNN1G (I67M)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 3	GUncertain significance
Select item 1990292	NM_001039.4(SCNN1G):c.317+18G>C	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277809	NM_001039.4(SCNN1G):c.317+145C>T	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286975	NM_001039.4(SCNN1G):c.317+264C>T	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265535	NM_001039.4(SCNN1G):c.317+280G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236992	NM_001039.4(SCNN1G):c.318-239T>A	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266779	NM_001039.4(SCNN1G):c.318-99T>C	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1650245	NM_001039.4(SCNN1G):c.318-17C>T	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 8826	NM_001039.4(SCNN1G):c.318-1G>A	SCNN1G	Single nucleotide variant (splice acceptor variant)	Pseudohypoaldosteronism, type IB3, autosomal recessive	GPathogenic
Select item 2549831	NM_001039.4(SCNN1G):c.326C>G (p.Thr109Ser)	SCNN1G (T109S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233621	NM_001039.4(SCNN1G):c.327C>T (p.Thr109=)	SCNN1G	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3058747	NM_001039.4(SCNN1G):c.327C>A (p.Thr109=)	SCNN1G	Single nucleotide variant (synonymous variant)	SCNN1G-related disorder	GLikely benign
Select item 3158625	NM_001039.4(SCNN1G):c.332G>A (p.Arg111His)	SCNN1G (R111H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408769	NM_001039.4(SCNN1G):c.332G>C (p.Arg111Pro)	SCNN1G (R111P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 288765	NM_001039.4(SCNN1G):c.342A>G (p.Leu114=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 165172	NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 318346	NM_001039.4(SCNN1G):c.399G>A (p.Glu133=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2080345	NM_001039.4(SCNN1G):c.401C>T (p.Ser134Phe)	SCNN1G (S134F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2732418	NM_001039.4(SCNN1G):c.410G>A (p.Arg137His)	SCNN1G (R137H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1323567	NM_001039.4(SCNN1G):c.412C>T (p.Arg138Ter)	SCNN1G (R138*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 751114	NM_001039.4(SCNN1G):c.420G>A (p.Ala140=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 318347	NM_001039.4(SCNN1G):c.435C>T (p.Ser145=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 2074030	NM_001039.4(SCNN1G):c.436G>A (p.Val146Ile)	SCNN1G (V146I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 318348	NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala)	SCNN1G (G149A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3158626	NM_001039.4(SCNN1G):c.457A>G (p.Arg153Gly)	SCNN1G (R153G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1313539	NM_001039.4(SCNN1G):c.470G>A (p.Arg157Gln)	SCNN1G (R157Q)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +3 more	GUncertain significance
Select item 165173	NM_001039.4(SCNN1G):c.474T>C (p.Ile158=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +3 more	GBenign
Select item 318349	NM_001039.4(SCNN1G):c.477G>A (p.Pro159=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 318350	NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp)	SCNN1G (R180W)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 318351	NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln)	SCNN1G (R180Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1920583	NM_001039.4(SCNN1G):c.546C>T (p.Val182=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8828	NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser)	SCNN1G (G183S)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +3 more	GBenign/Likely benign
Select item 165174	NM_001039.4(SCNN1G):c.549C>T (p.Gly183=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2731600	NM_001039.4(SCNN1G):c.551G>T (p.Gly184Val)	SCNN1G (G184V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331727	NM_001039.4(SCNN1G):c.564C>A (p.His188Gln)	SCNN1G (H188Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 3	GUncertain significance
Select item 803226	NM_001039.4(SCNN1G):c.576T>A (p.Asn192Lys)	SCNN1G (N192K)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive	GUncertain significance
Select item 885190	NM_001039.4(SCNN1G):c.589G>C (p.Glu197Gln)	SCNN1G (E197Q)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 8829	NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)	SCNN1G (E197K)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +4 more	GBenign/Likely benign
Select item 2876074	NM_001039.4(SCNN1G):c.594C>T (p.Ser198=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929122	NM_001039.4(SCNN1G):c.603G>T (p.Val201=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1269414	NM_001039.4(SCNN1G):c.618+106T>C	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240555	NM_001039.4(SCNN1G):c.619-273dup	SCNN1G	Duplication (intron variant)	not provided	GBenign
Select item 1267136	NM_001039.4(SCNN1G):c.619-226G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678660	NM_001039.4(SCNN1G):c.619-78G>T	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962366	NM_001039.4(SCNN1G):c.619-20G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 178805	NM_001039.4(SCNN1G):c.636C>T (p.Ser212=)	SCNN1G	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +3 more	GBenign/Likely benign
Select item 2443065	NM_001039.4(SCNN1G):c.637G>A (p.Asp213Asn)	SCNN1G (D213N)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 318352	NM_001039.4(SCNN1G):c.663G>T (p.Ser221=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 285901	NM_001039.4(SCNN1G):c.699C>T (p.His233=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 318353	NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn)	SCNN1G (T259N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1236884	NM_001039.4(SCNN1G):c.810-203AG[2]	SCNN1G	Microsatellite (intron variant)	not provided	GBenign
Select item 2956243	NM_001039.4(SCNN1G):c.819G>A (p.Thr273=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799422	NM_001039.4(SCNN1G):c.819G>C (p.Thr273=)	SCNN1G	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +3 more	GLikely benign
Select item 2068785	NM_001039.4(SCNN1G):c.835A>T (p.Met279Leu)	SCNN1G (M279L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2995858	NM_001039.4(SCNN1G):c.843G>C (p.Gly281=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972605	NM_001039.4(SCNN1G):c.896T>C (p.Met299Thr)	SCNN1G (M299T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895778	NM_001039.4(SCNN1G):c.899G>C (p.Gly300Ala)	SCNN1G (G300A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981487	NM_001039.4(SCNN1G):c.913+2_913+5dup	SCNN1G	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2752048	NM_001039.4(SCNN1G):c.913+1G>T	SCNN1G	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1262759	NM_001039.4(SCNN1G):c.913+50T>C	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294522	NM_001039.4(SCNN1G):c.913+62G>C	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2956074	NM_001039.4(SCNN1G):c.914-18G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 886092	NM_001039.4(SCNN1G):c.940G>A (p.Glu314Lys)	SCNN1G (E314K)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +1 more	GUncertain significance
Select item 3047900	NM_001039.4(SCNN1G):c.945G>A (p.Glu315=)	SCNN1G	Single nucleotide variant (synonymous variant)	SCNN1G-related disorder	GLikely benign
Select item 2917000	NM_001039.4(SCNN1G):c.954C>T (p.Asn318=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2722849	NM_001039.4(SCNN1G):c.988A>G (p.Ile330Val)	SCNN1G (I330V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858948	NM_001039.4(SCNN1G):c.994C>T (p.His332Tyr)	SCNN1G (H332Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1685092	NM_001039.4(SCNN1G):c.1016T>G (p.Phe339Cys)	SCNN1G (F339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1949290	NM_001039.4(SCNN1G):c.1018G>T (p.Val340Phe)	SCNN1G (V340F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2241988	NM_001039.4(SCNN1G):c.1027G>A (p.Val343Met)	SCNN1G (V343M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631991	NM_001039.4(SCNN1G):c.1072C>T (p.His358Tyr)	SCNN1G (H358Y)	Single nucleotide variant (missense variant)	SCNN1G-related disorder	GUncertain significance
Select item 1278721	NM_001039.4(SCNN1G):c.1078-232G>C	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277422	NM_001039.4(SCNN1G):c.1078-229C>T	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2956870	NM_001039.4(SCNN1G):c.1078-17TGC[3]	SCNN1G	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2435777	NM_001039.4(SCNN1G):c.1082A>T (p.Glu361Val)	SCNN1G (E361V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 318354	NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 722078	NM_001039.4(SCNN1G):c.1119G>A (p.Thr373=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155209	NM_001039.4(SCNN1G):c.1122G>A (p.Glu374=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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