"GeneDx"[submitter] AND "SCNN1G"[gene] - ClinVar

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Search results

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 280615	NM_001039.4(SCNN1G):c.146_149dup (p.Leu51fs)	SCNN1G (L51fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 165172	NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 318347	NM_001039.4(SCNN1G):c.435C>T (p.Ser145=)	SCNN1G	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
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 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 165174	NM_001039.4(SCNN1G):c.549C>T (p.Gly183=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 8829	NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)	SCNN1G (E197K)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely 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 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 1236884	NM_001039.4(SCNN1G):c.810-203AG[2]	SCNN1G	Microsatellite (intron variant)	not provided	GBenign
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 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 165176	NM_001039.4(SCNN1G):c.1176+14A>G	SCNN1G	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1289716	NM_001039.4(SCNN1G):c.1176+69A>G	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282630	NM_001039.4(SCNN1G):c.1176+210T>C	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242819	NM_001039.4(SCNN1G):c.1176+238G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261236	NM_001039.4(SCNN1G):c.1177-197G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179350	NM_001039.4(SCNN1G):c.1177-122G>T	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259222	NM_001039.4(SCNN1G):c.1177-93G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231299	NM_001039.4(SCNN1G):c.1177-55T>C	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817697	NM_001039.4(SCNN1G):c.1278_1288del (p.Gln427fs)	SCNN1G (Q427fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1190719	NM_001039.4(SCNN1G):c.1294+100G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279162	NM_001039.4(SCNN1G):c.1294+252C>G	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245056	NM_001039.4(SCNN1G):c.1373+29T>C	SCNN1G	Single nucleotide variant (intron variant)	Liddle syndrome 2 +3 more	GBenign
Select item 165175	NM_001039.4(SCNN1G):c.1432-7G>A	SCNN1G	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 3 +4 more	GBenign
Select item 1242641	NM_001039.4(SCNN1G):c.1493+33T>G	SCNN1G	Single nucleotide variant (intron variant)	Liddle syndrome 2 +3 more	GBenign
Select item 1201418	NM_001039.4(SCNN1G):c.1493+110dup	SCNN1G	Duplication (intron variant)	not provided	GLikely benign
Select item 1250532	NM_001039.4(SCNN1G):c.1493+110_1493+111insTA	SCNN1G	Insertion (intron variant)	not provided	GBenign
Select item 1266623	NM_001039.4(SCNN1G):c.1493+214T>C	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257202	NM_001039.4(SCNN1G):c.1494-49A>G	SCNN1G	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1185021	NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln)	SCNN1G (L511Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 451433	NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr)	SCNN1G (M517T)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 318358	NM_001039.4(SCNN1G):c.1569+10G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1196999	NM_001039.4(SCNN1G):c.1569+140G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 318359	NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser)	SCNN1G (N530S)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 2443466	NM_001039.4(SCNN1G):c.1720G>C (p.Ala574Pro)	SCNN1G (A574P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075492	NM_001039.4(SCNN1G):c.1779_1781dup (p.Pro594_Ala595insPro)	SCNN1G	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1304028	NM_001039.4(SCNN1G):c.1874C>G (p.Pro625Arg)	SCNN1G (P625R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897266	NM_001039.4(SCNN1G):c.1891C>T (p.Arg631Cys)	SCNN1G (R631C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 165177	NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=)	SCNN1G	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 318363	NM_001039.4(SCNN1G):c.*159T>G	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GBenign
Select item 318364	NM_001039.4(SCNN1G):c.*236C>T	SCNN1G	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 318365	NM_001039.4(SCNN1G):c.*268G>A	SCNN1G	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 318367	NM_001039.4(SCNN1G):c.*572A>G	SCNN1G	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 318370	NM_001039.4(SCNN1G):c.*606T>A	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GBenign
Select item 318371	NM_001039.4(SCNN1G):c.*659T>C	SCNN1G	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 318372	NM_001039.4(SCNN1G):c.*675A>G	SCNN1G	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 318379	NM_001039.4(SCNN1G):c.*1261G>A	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GBenign/Likely benign
Select item 318380	NM_001039.4(SCNN1G):c.*1369C>T	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +2 more	GBenign
Select item 1326238	NC_000016.10:g.23217001C>T	SCNN1G	Single nucleotide variant	not provided	GLikely benign

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Items: 69