"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC12A3"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 127

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562448	NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)	SLC12A3 (A13P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1385271	NM_001126108.2(SLC12A3):c.88G>T (p.Glu30Ter)	SLC12A3 (E30*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 101514	NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met)	SLC12A3 (T60M)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 653276	NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs)	SLC12A3 (R80fs)	Duplication (frameshift variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 319889	NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)	SLC12A3 (R83W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 448955	NM_001126108.2(SLC12A3):c.283del (p.Gln95fs)	SLC12A3 (Q95fs)	Deletion (frameshift variant +1 more)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 1431777	NM_001126108.2(SLC12A3):c.296A>T (p.His99Leu)	SLC12A3 (H98L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1301842	NM_001126108.2(SLC12A3):c.322C>T (p.Arg108Trp)	SLC12A3 (R107W +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GUncertain significance
Select item 1116676	NM_001126108.2(SLC12A3):c.333C>T (p.His111=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1308886	NM_001126108.2(SLC12A3):c.334G>C (p.Glu112Gln)	SLC12A3 (E111Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1075402	NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter)	SLC12A3 (E111* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 505768	NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)	SLC12A3 (E121D +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1068374	NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys)	SLC12A3 (R134C +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +2 more	GConflicting classifications of pathogenicity
Select item 632060	NM_001126108.2(SLC12A3):c.404G>A (p.Arg135His)	SLC12A3 (R135H +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 319892	NM_001126108.2(SLC12A3):c.422G>C (p.Gly141Ala)	SLC12A3 (G141A +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GUncertain significance
Select item 652156	NM_001126108.2(SLC12A3):c.438C>A (p.Cys146Ter)	SLC12A3 (C145* +1 more)	Single nucleotide variant (nonsense)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 448397	NM_001126108.2(SLC12A3):c.450T>G (p.Ile150Met)	SLC12A3 (I150M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 429782	NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe)	SLC12A3 (I154F +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 647629	NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln)	SLC12A3 (R157Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 939124	NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter)	SLC12A3 (W160* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 242798	NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met)	SLC12A3 (T163M +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 1667629	NM_001126108.2(SLC12A3):c.489G>C (p.Thr163=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1184457	NM_001126108.2(SLC12A3):c.505+5G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 448398	NM_001126108.2(SLC12A3):c.506-1G>A	SLC12A3	Single nucleotide variant (splice acceptor variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 1028205	NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu)	SLC12A3 (S177L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 817650	NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs)	SLC12A3 (I184fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1684175	NM_001126108.2(SLC12A3):c.602-16G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 1505020	NM_001126108.2(SLC12A3):c.626G>C (p.Arg209Pro)	SLC12A3 (R208P +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GLikely pathogenic
Select item 937539	NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro)	SLC12A3 (L214P +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 548560	NM_001126108.2(SLC12A3):c.694G>A (p.Ala232Thr)	SLC12A3 (A232T +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GUncertain significance
Select item 1684177	NM_001126108.2(SLC12A3):c.727C>T (p.Arg243Trp)	SLC12A3 (R242W +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 958758	NM_001126108.2(SLC12A3):c.741+1G>A	SLC12A3	Single nucleotide variant (splice donor variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 793627	NM_001126108.2(SLC12A3):c.741+8C>G	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +1 more	GLikely benign
Select item 792642	NM_001126108.2(SLC12A3):c.741+9G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +1 more	GLikely benign
Select item 730141	NM_001126108.2(SLC12A3):c.742-6C>T	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +1 more	GLikely benign
Select item 793062	NM_001126108.2(SLC12A3):c.744G>A (p.Glu248=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 805473	NM_001126108.2(SLC12A3):c.760G>A (p.Val254Met)	SLC12A3 (V254M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 504886	NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly)	SLC12A3 (A264G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1809686	NM_001126108.2(SLC12A3):c.792C>T (p.Ala264=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 209191	NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)	SLC12A3 (L272P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 985944	NM_001126108.2(SLC12A3):c.852+1G>A	SLC12A3	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 448400	NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)	SLC12A3 (A313V +1 more)	Single nucleotide variant (missense variant)	SLC12A3-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1454113	NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala)	SLC12A3 (G316A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1067766	NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)	SLC12A3 (R320W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 8592	NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu)	SLC12A3 (P349L +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 887356	NM_001126108.2(SLC12A3):c.1114C>A (p.Pro372Thr)	SLC12A3 (P371T +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 951623	NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met)	SLC12A3 (T381M +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 1133150	NM_001126108.2(SLC12A3):c.1176C>G (p.Thr392=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 779165	NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=)	SLC12A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 437426	NM_001126108.2(SLC12A3):c.1180+1G>T	SLC12A3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 64413	NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met)	SLC12A3 (V397M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 946522	NM_001126108.2(SLC12A3):c.1196_1202dup (p.Ala401_Ser402insTer)	SLC12A3	Duplication (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 448391	NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)	SLC12A3 (R399C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 381528	NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu)	SLC12A3 (R399L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1383910	NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs)	SLC12A3 (A419fs +1 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 1256468	NM_001126108.2(SLC12A3):c.1261T>G (p.Cys421Gly)	SLC12A3 (C420G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 586601	NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)	SLC12A3 (G439S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 319903	NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)	SLC12A3 (G463R +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 1488711	NM_001126108.2(SLC12A3):c.1388G>A (p.Gly463Glu)	SLC12A3 (G462E +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GLikely pathogenic
Select item 631753	NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr)	SLC12A3 (A464T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 255878	NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1297541	NM_001126108.2(SLC12A3):c.1396C>G (p.Leu466Val)	SLC12A3 (L465V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 887542	NM_001126108.2(SLC12A3):c.1412C>T (p.Ala471Val)	SLC12A3 (A471V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 642516	NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn)	SLC12A3 (D485N +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 1085842	NM_001126108.2(SLC12A3):c.1458C>T (p.Asp486=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +1 more	GLikely benign
Select item 1179062	NM_001126108.2(SLC12A3):c.1485C>A (p.Phe495Leu)	SLC12A3 (F494L +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1117172	NM_001126108.2(SLC12A3):c.1485C>T (p.Phe495=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 712200	NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val)	SLC12A3 (I520V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 1067262	NM_001126108.2(SLC12A3):c.1567G>A (p.Ala523Thr)	SLC12A3 (A522T +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 1134111	NM_001126108.2(SLC12A3):c.1568-5C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1479305	NM_001126108.2(SLC12A3):c.1601A>G (p.Asn534Ser)	SLC12A3 (N534S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1684161	NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr)	SLC12A3 (A549T +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +2 more	GUncertain significance
Select item 642947	NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)	SLC12A3 (S555L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 665361	NM_001126108.2(SLC12A3):c.1670-191C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1455492	NM_001126108.2(SLC12A3):c.1674G>A (p.Trp558Ter)	SLC12A3 (W557* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 225468	NM_001126108.2(SLC12A3):c.1706C>T (p.Ala569Val)	SLC12A3 (A569V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GUncertain significance
Select item 944812	NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys)	SLC12A3 (R641C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 397523	NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly)	SLC12A3 (R642G +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 319909	NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His)	SLC12A3 (R642H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 417863	NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	SLC12A3 (P643L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 632259	NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met)	SLC12A3 (T649M +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 8589	NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu)	SLC12A3 (R655L +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 8588	NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	SLC12A3 (R655H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 950991	NM_001126108.2(SLC12A3):c.2037+1G>A	SLC12A3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1160209	NM_001126108.2(SLC12A3):c.2037+10C>T	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +1 more	GLikely benign
Select item 1114527	NM_001126108.2(SLC12A3):c.2038-6C>T	SLC12A3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1128293	NM_001126108.2(SLC12A3):c.2121C>G (p.Ala707=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +1 more	GLikely benign
Select item 887608	NM_001126108.2(SLC12A3):c.2129C>T (p.Ser710Leu)	SLC12A3 (S709L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887609	NM_001126108.2(SLC12A3):c.2141C>T (p.Ala714Val)	SLC12A3 (A714V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 887610	NM_001126108.2(SLC12A3):c.2153G>A (p.Arg718His)	SLC12A3 (R718H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 994770	NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)	SLC12A3 (G728V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 562347	NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg)	SLC12A3 (G731R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1376627	NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg)	SLC12A3 (L738R +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 208612	NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	SLC12A3 (G741R +1 more)	Single nucleotide variant (missense variant)	Muscle weakness +6 more	GPathogenic/Likely pathogenic
Select item 1101414	NM_001126108.2(SLC12A3):c.2262G>A (p.Val754=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +1 more	GLikely benign
Select item 1343265	NM_001126108.2(SLC12A3):c.2273T>C (p.Ile758Thr)	SLC12A3 (I757T +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GUncertain significance
Select item 794519	NM_001126108.2(SLC12A3):c.2285+7C>T	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +1 more	GLikely benign
Select item 735078	NM_001126108.2(SLC12A3):c.2285+8G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +2 more	GConflicting classifications of pathogenicity
Select item 1087882	NM_001126108.2(SLC12A3):c.2331G>A (p.Arg777=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 712626	NM_001126108.2(SLC12A3):c.2368+8C>A	SLC12A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign

<< First< Prev

Page of 2