"GeneDx"[submitter] AND "SLC12A1"[gene] - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1706703	NM_000338.3(SLC12A1):c.-186-75T>A	CTXN2-AS1, SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276462	NM_000338.3(SLC12A1):c.-186-28C>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 316250	NM_000338.3(SLC12A1):c.-136A>G	SLC12A1	Single nucleotide variant (5 prime UTR variant)	Bartter disease type 1 +1 more	GBenign
Select item 886274	NM_000338.3(SLC12A1):c.59G>A (p.Arg20His)	SLC12A1 (R20H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 445491	NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)	SLC12A1 (R116H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1187225	NM_000338.3(SLC12A1):c.420+57C>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230809	NM_000338.3(SLC12A1):c.628+146T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256673	NM_000338.3(SLC12A1):c.628+159G>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706892	NM_000338.3(SLC12A1):c.629-164G>A	SLC12A1, CTXN2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190183	NM_000338.3(SLC12A1):c.629-118C>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 784616	NM_000338.3(SLC12A1):c.695C>T (p.Ala232Val)	SLC12A1 (A232V)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1205774	NM_000338.3(SLC12A1):c.724+146T>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180934	NM_000338.3(SLC12A1):c.725-285G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221354	NM_000338.3(SLC12A1):c.725-271T>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 316257	NM_000338.3(SLC12A1):c.828G>A (p.Val276=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1923313	NM_000338.3(SLC12A1):c.922A>T (p.Thr308Ser)	SLC12A1 (T308S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1271149	NM_000338.3(SLC12A1):c.975+30A>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264094	NM_000338.3(SLC12A1):c.1087+285T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287982	NM_000338.3(SLC12A1):c.1088-253A>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237479	NM_000338.3(SLC12A1):c.1088-112dup	SLC12A1	Duplication (intron variant)	not provided	GBenign
Select item 1343856	NM_000338.3(SLC12A1):c.1168G>A (p.Ala390Thr)	SLC12A1 (A390T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201821	NM_000338.3(SLC12A1):c.1215+277A>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 884310	NM_000338.3(SLC12A1):c.1300+12G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1241399	NM_000338.3(SLC12A1):c.1300+105G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1705009	NM_000338.3(SLC12A1):c.1414C>T (p.His472Tyr)	SLC12A1 (H472Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1282510	NM_000338.3(SLC12A1):c.1453-322C>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202189	NM_000338.3(SLC12A1):c.1453-268C>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282355	NM_000338.3(SLC12A1):c.1453-126AAC[5]	SLC12A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1273304	NM_000338.3(SLC12A1):c.1453-80A>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179539	NM_000338.3(SLC12A1):c.1453-63G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255872	NM_000338.3(SLC12A1):c.1614T>C (p.Tyr538=)	SLC12A1	Single nucleotide variant (synonymous variant)	Bartter disease type 1 +2 more	GBenign
Select item 1294539	NM_000338.3(SLC12A1):c.1684+149G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267239	NM_000338.3(SLC12A1):c.1685-292dup	SLC12A1	Duplication (intron variant)	not provided	GBenign
Select item 1266379	NM_000338.3(SLC12A1):c.1685-259A>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179275	NM_000338.3(SLC12A1):c.1685-237dup	SLC12A1	Duplication (intron variant)	not provided	GBenign
Select item 1226964	NM_000338.3(SLC12A1):c.1685-72G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245581	NM_000338.3(SLC12A1):c.1786+122A>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287765	NM_000338.3(SLC12A1):c.1786+154G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268085	NM_000338.3(SLC12A1):c.1786+231G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 523909	NM_000338.3(SLC12A1):c.1917C>G (p.Tyr639Ter)	LOC126862123, SLC12A1 (Y639*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1269423	NM_000338.3(SLC12A1):c.1942+85G>T	LOC126862123, SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208182	NM_000338.3(SLC12A1):c.1942+157G>A	LOC126862123, SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279783	NM_000338.3(SLC12A1):c.1943-255G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186134	NM_000338.3(SLC12A1):c.1943-175A>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278170	NM_000338.3(SLC12A1):c.1943-32T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182461	NM_000338.3(SLC12A1):c.2042+244G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206597	NM_000338.3(SLC12A1):c.2043-32G>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255873	NM_000338.3(SLC12A1):c.2043-9dup	SLC12A1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 2412995	NM_000338.3(SLC12A1):c.2089C>T (p.Leu697Phe)	SLC12A1 (L697F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1214567	NM_000338.3(SLC12A1):c.2154+197G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244397	NM_000338.3(SLC12A1):c.2155-31G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 316265	NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val)	SLC12A1 (A733V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 725345	NM_000338.3(SLC12A1):c.2278G>A (p.Val760Ile)	SLC12A1 (V760I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2428826	NM_000338.3(SLC12A1):c.2281C>T (p.Arg761Ter)	SLC12A1 (R761*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1087101	NM_000338.3(SLC12A1):c.2287C>G (p.Leu763Val)	SLC12A1 (L763V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1257193	NM_000338.3(SLC12A1):c.2296-157C>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214692	NM_000338.3(SLC12A1):c.2296-148G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276372	NM_000338.3(SLC12A1):c.2296-124T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271935	NM_000338.3(SLC12A1):c.2296-21A>G	SLC12A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 316269	NM_000338.3(SLC12A1):c.2296-6G>T	SLC12A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 953927	NM_000338.3(SLC12A1):c.2342A>G (p.Tyr781Cys)	SLC12A1 (Y781C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1230849	NM_000338.3(SLC12A1):c.2402+219C>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296826	NM_000338.3(SLC12A1):c.2485+164T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248346	NM_000338.3(SLC12A1):c.2485+271G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192979	NM_000338.3(SLC12A1):c.2486-235T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221654	NM_000338.3(SLC12A1):c.2486-109C>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290372	NM_000338.3(SLC12A1):c.2630-169T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266432	NM_000338.3(SLC12A1):c.2630-22A>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1070803	NM_000338.3(SLC12A1):c.2716C>T (p.Gln906Ter)	SLC12A1 (Q906*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1178594	NM_000338.3(SLC12A1):c.2762-29A>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255874	NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala)	SLC12A1 (V958A)	Single nucleotide variant (missense variant)	Bartter disease type 1 +2 more	GBenign/Likely benign
Select item 450686	NM_000338.3(SLC12A1):c.2873+1G>A	SLC12A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1297897	NM_000338.3(SLC12A1):c.2874-138C>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186713	NM_000338.3(SLC12A1):c.2874-45T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1312086	NM_000338.3(SLC12A1):c.2882C>T (p.Ser961Phe)	SLC12A1 (S961F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1262839	NM_000338.3(SLC12A1):c.2960+22A>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289977	NM_000338.3(SLC12A1):c.2960+267T>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216058	NM_000338.3(SLC12A1):c.2961-305A>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212639	NM_000338.3(SLC12A1):c.2961-239A>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248551	NM_000338.3(SLC12A1):c.2961-70C>T	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283135	NM_000338.3(SLC12A1):c.3097-261T>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 316281	NM_000338.3(SLC12A1):c.3113G>A (p.Arg1038Gln)	SLC12A1 (R1038Q)	Single nucleotide variant (missense variant)	Bartter disease type 1 +2 more	GUncertain significance
Select item 1067800	NM_000338.3(SLC12A1):c.3164+1G>A	SLC12A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1263182	NM_000338.3(SLC12A1):c.3164+130A>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287766	NM_000338.3(SLC12A1):c.3164+275T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226201	NM_000338.3(SLC12A1):c.3165-174T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1343874	NM_000338.3(SLC12A1):c.3165-109_3165-100dup	SLC12A1	Duplication (intron variant)	not provided	GLikely benign
Select item 1267058	NM_000338.3(SLC12A1):c.3165-102_3165-100dup	SLC12A1	Duplication (intron variant)	not provided	GBenign
Select item 1265100	NM_000338.3(SLC12A1):c.3165-101_3165-100dup	SLC12A1	Duplication (intron variant)	not provided	GBenign
Select item 1258861	NM_000338.3(SLC12A1):c.3165-103_3165-100dup	SLC12A1	Duplication (intron variant)	not provided	GBenign
Select item 1228830	NM_000338.3(SLC12A1):c.3165-100dup	SLC12A1	Duplication (intron variant)	not provided	GBenign
Select item 316284	NM_000338.3(SLC12A1):c.*101C>A	SLC12A1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 316285	NM_000338.3(SLC12A1):c.*110G>T	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1 +1 more	GBenign
Select item 316286	NM_000338.3(SLC12A1):c.*126T>C	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1 +1 more	GBenign
Select item 316289	NM_000338.3(SLC12A1):c.*158C>T	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1 +1 more	GBenign/Likely benign
Select item 316290	NM_000338.3(SLC12A1):c.*284A>G	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1 +1 more	GBenign
Select item 316291	NM_000338.3(SLC12A1):c.*300T>C	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1 +1 more	GBenign

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Items: 97