"GeneDx"[submitter] AND "SCNN1B"[gene] - ClinVar

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Search results

Items: 68

	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 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 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 1220444	NM_000336.3(SCNN1B):c.-8-73T>C	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 8844	NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)	SCNN1B (S82C)	Single nucleotide variant (missense variant)	SCNN1B-related condition +5 more	GConflicting classifications of pathogenicity
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 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 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 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 178802	NM_000336.3(SCNN1B):c.879C>T (p.Phe293=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 1290154	NM_000336.3(SCNN1B):c.880+166C>G	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225840	NM_000336.3(SCNN1B):c.880+199T>C	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285984	NM_000336.3(SCNN1B):c.880+208C>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244351	NM_000336.3(SCNN1B):c.881-176G>A	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246379	NM_000336.3(SCNN1B):c.1044+126G>C	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280096	NM_000336.3(SCNN1B):c.1045-130C>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180143	NM_000336.3(SCNN1B):c.1045-114del	SCNN1B	Deletion (intron variant)	not provided	GBenign
Select item 450832	NM_000336.3(SCNN1B):c.1115A>T (p.Asn372Ile)	SCNN1B (N372I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1263004	NM_000336.3(SCNN1B):c.1152+43G>A	SCNN1B	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GBenign
Select item 1328642	NM_000336.3(SCNN1B):c.1152+312T>C	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245865	NM_000336.3(SCNN1B):c.1152+332G>A	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 318432	NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys)	SCNN1B (R388C)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1304353	NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys)	SCNN1B (R410C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1241029	NM_000336.3(SCNN1B):c.1270+121C>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275557	NM_000336.3(SCNN1B):c.1270+217G>A	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282712	NM_000336.3(SCNN1B):c.1271-231G>A	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178795	NM_000336.3(SCNN1B):c.1271-71G>C	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 178804	NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val)	SCNN1B (G442V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 2413023	NM_000336.3(SCNN1B):c.1340C>G (p.Ser447Cys)	SCNN1B (S411C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 884640	NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr)	SCNN1B (M459T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1263745	NM_000336.3(SCNN1B):c.1404+196_1404+202del	SCNN1B	Deletion (intron variant)	not provided	GBenign
Select item 1249209	NM_000336.3(SCNN1B):c.1404+207_1404+241del	SCNN1B	Deletion (intron variant)	not provided	GBenign
Select item 1202677	NM_000336.3(SCNN1B):c.1404+219del	SCNN1B	Deletion (intron variant)	not provided	GLikely benign
Select item 1201548	NM_000336.3(SCNN1B):c.1404+222T>C	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239958	NM_000336.3(SCNN1B):c.1405-211A>G	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263202	NM_000336.3(SCNN1B):c.1405-158T>A	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249214	NM_000336.3(SCNN1B):c.1466+113G>C	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254590	NM_000336.3(SCNN1B):c.1467-215C>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 165170	NM_000336.3(SCNN1B):c.1467-14G>A	SCNN1B	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 870735	NM_000336.3(SCNN1B):c.1542+1G>A	SCNN1B	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1707353	NM_000336.3(SCNN1B):c.1542+45A>G	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240755	NM_000336.3(SCNN1B):c.1543-112A>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255866	NM_000336.3(SCNN1B):c.1543-17C>T	SCNN1B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 8830	NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter)	SCNN1B (R566*)	Single nucleotide variant (nonsense)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GPathogenic
Select item 451424	NM_000336.3(SCNN1B):c.1738G>T (p.Glu580Ter)	SCNN1B (E580*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1810098	NM_000336.3(SCNN1B):c.1751C>T (p.Ala584Val)	SCNN1B (A548V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666637	NM_000336.3(SCNN1B):c.1781C>T (p.Thr594Met)	SCNN1B (T594M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1686695	NM_000336.3(SCNN1B):c.1838C>T (p.Pro613Leu)	SCNN1B (P613L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 318446	NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=)	SCNN1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 995268	NM_000336.3(SCNN1B):c.1888G>A (p.Val630Ile)	SCNN1B (V630I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1303165	NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys)	SCNN1B (E632K)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GUncertain significance

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Items: 68