ClinVar for MedGen (Select 75681) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236716	NM_001126108.2(SLC12A3):c.1316G>T (p.Gly439Val)	SLC12A3 (G438V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 3236185	NM_001126108.2(SLC12A3):c.2925-1G>A	LOC126862361, SLC12A3	Single nucleotide variant (splice acceptor variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 3236146	NM_001126108.2(SLC12A3):c.634G>C (p.Gly212Arg)	SLC12A3 (G211R +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3233922	NM_001126108.2(SLC12A3):c.2099T>C (p.Leu700Pro)	SLC12A3 (L699P +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 3068861	NM_001126108.2(SLC12A3):c.2814del (p.Trp939fs)	SLC12A3 (W938fs +3 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 3068413	NM_001126108.2(SLC12A3):c.1825+1G>C	SLC12A3	Single nucleotide variant (splice donor variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 3068357	NM_001126108.2(SLC12A3):c.447C>G (p.Asn149Lys)	SLC12A3 (N148K +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 3066173	NM_001126108.2(SLC12A3):c.1568-12G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 2682419	NM_001126108.2(SLC12A3):c.378del (p.Ser126fs)	SLC12A3 (S125fs +1 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 2627492	NM_001126108.2(SLC12A3):c.1443+1G>A	SLC12A3	Single nucleotide variant (splice donor variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 2585272	NM_001126108.2(SLC12A3):c.1394C>A (p.Thr465Asn)	SLC12A3 (T464N +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 2577273	NM_001126108.2(SLC12A3):c.791delinsGCGTGGTCTCGGTCATTGG (p.Ala264delinsGlyValValSerValIleGly)	SLC12A3	Indel (inframe_indel)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 2576610	NM_001126108.2(SLC12A3):c.1067C>T (p.Ala356Val)	SLC12A3 (A355V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 2572446	NM_001126108.2(SLC12A3):c.843_846dup (p.Ser283fs)	SLC12A3 (S282fs +1 more)	Duplication (frameshift variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 2502436	NM_001126108.2(SLC12A3):c.2522-18G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 2446388	NM_001126108.2(SLC12A3):c.1668del (p.Trp558fs)	SLC12A3 (W557fs +1 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 2435968	NM_001126108.2(SLC12A3):c.575T>C (p.Ile192Thr)	SLC12A3 (I191T +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 2433367	NM_001126108.2(SLC12A3):c.751del (p.Ala251fs)	SLC12A3 (A250fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2433361	NM_001126108.2(SLC12A3):c.426del (p.Val142_Met143insTer)	SLC12A3	Deletion (frameshift variant +1 more)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 2200213	NM_001126108.2(SLC12A3):c.2800C>T (p.Arg934Trp)	SLC12A3 (R933W +3 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 2152407	NM_001126108.2(SLC12A3):c.704C>T (p.Thr235Met)	SLC12A3 (T234M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1942017	NM_001126108.2(SLC12A3):c.2369-2A>G	SLC12A3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
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 1804676	NC_000016.9:g.(?_56899118)_56906295del	SLC12A3	Deletion	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1804164	NM_001126108.2(SLC12A3):c.[1315G>A];[2856+1G>T]			Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 1723433	NM_000339.2:c.(?_-30)_885del	SLC12A3	Deletion	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1709256	NM_001126108.2(SLC12A3):c.1702del (p.Trp568fs)	SLC12A3 (W567fs +1 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1709144	NM_001126108.2(SLC12A3):c.1452C>A (p.Cys484Ter)	SLC12A3 (C483* +1 more)	Single nucleotide variant (nonsense)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1705505	NM_001126108.2(SLC12A3):c.2238G>A (p.Trp746Ter)	SLC12A3 (W745* +1 more)	Single nucleotide variant (nonsense)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 1705486	NM_001126108.2(SLC12A3):c.979del (p.Gln327fs)	SLC12A3 (Q326fs +1 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1684190	NM_001126108.2(SLC12A3):c.2369-191C>T	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GLikely benign
Select item 1684189	NM_001126108.2(SLC12A3):c.2368+185C>T	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GLikely benign
Select item 1684188	NM_001126108.2(SLC12A3):c.602-11T>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1684187	NM_001126108.2(SLC12A3):c.430-472_430-461del	SLC12A3	Deletion (intron variant)	Familial hypokalemia-hypomagnesemia	GLikely benign
Select item 1684186	NM_001126108.2(SLC12A3):c.2925-33A>G	LOC126862361, SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 1684185	NM_001126108.2(SLC12A3):c.2924+825C>T	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 1684184	NM_001126108.2(SLC12A3):c.2522-218_2522-215del	SLC12A3	Deletion (intron variant)	Familial hypokalemia-hypomagnesemia	GLikely benign
Select item 1684183	NM_001126108.2(SLC12A3):c.1148C>A (p.Thr383Asn)	SLC12A3 (T382N +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 1684182	NM_001126108.2(SLC12A3):c.1095+4A>G	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 1684181	NM_001126108.2(SLC12A3):c.2746G>T (p.Ala916Ser)	SLC12A3 (A916S +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 1684180	NM_001126108.2(SLC12A3):c.3056A>G (p.Tyr1019Cys)	LOC126862361, SLC12A3 (Y1019C +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 1684179	NM_001126108.2(SLC12A3):c.2663T>C (p.Leu888Pro)	SLC12A3 (L888P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1684178	NM_001126108.2(SLC12A3):c.2336G>A (p.Gly779Glu)	SLC12A3 (G778E +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	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 1684176	NM_001126108.2(SLC12A3):c.852+243C>T	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1684175	NM_001126108.2(SLC12A3):c.602-16G>A	SLC12A3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1684174	NM_001126108.2(SLC12A3):c.283-435_283-384dup	SLC12A3	Duplication (intron variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1684173	NM_001126108.2(SLC12A3):c.2721-2A>T	SLC12A3	Single nucleotide variant (splice acceptor variant)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 1684172	NM_001126108.2(SLC12A3):c.2521+255G>A	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 1684171	NM_001126108.2(SLC12A3):c.2420-37_2420-19del	SLC12A3	Deletion (intron variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1684170	NM_001126108.2(SLC12A3):c.2037+87A>G	SLC12A3	Single nucleotide variant (intron variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1684169	NM_001126108.2(SLC12A3):c.201T>A (p.Tyr67Ter)	SLC12A3 (Y67*)	Single nucleotide variant (nonsense)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 1684168	NM_001126108.2(SLC12A3):c.1444-2_1462dup	SLC12A3	Duplication (splice acceptor variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1684167	NM_001126108.2(SLC12A3):c.1096-540_1181-347del	SLC12A3	Deletion (splice acceptor variant +1 more)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 1684166	NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp)	SLC12A3 (R958W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1684165	NM_001126108.2(SLC12A3):c.2856G>A (p.Lys952=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1684164	NM_001126108.2(SLC12A3):c.2521G>C (p.Gly841Arg)	SLC12A3 (G841R +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1684163	NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys)	SLC12A3 (R54C)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1684162	NM_001126108.2(SLC12A3):c.1687C>T (p.Gln563Ter)	SLC12A3 (Q562* +1 more)	Single nucleotide variant (nonsense)	Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 1684161	NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr)	SLC12A3 (A549T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1684160	NM_001126108.2(SLC12A3):c.1349T>G (p.Val450Gly)	SLC12A3 (V449G +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 1684159	NM_001126108.2(SLC12A3):c.71C>T (p.Thr24Ile)	SLC12A3 (T24I)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1684158	NM_001126108.2(SLC12A3):c.887C>T (p.Ser296Phe)	SLC12A3 (S295F +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 1684157	NM_001126108.2(SLC12A3):c.791C>A (p.Ala264Asp)	SLC12A3 (A263D +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 1684156	NM_001126108.2(SLC12A3):c.671C>A (p.Ala224Asp)	SLC12A3 (A223D +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GConflicting classifications of pathogenicity
Select item 1684155	NM_001126108.2(SLC12A3):c.1A>G (p.Met1Val)	SLC12A3 (M1V)	Single nucleotide variant (missense variant +1 more)	Familial hypokalemia-hypomagnesemia	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 1581758	NM_001126108.2(SLC12A3):c.2368+18C>A	SLC12A3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1505020	NM_001126108.2(SLC12A3):c.626G>C (p.Arg209Pro)	SLC12A3 (R208P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1499557	NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn)	SLC12A3 (D839N +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 1491727	NM_001126108.2(SLC12A3):c.429+1_429+28del	SLC12A3	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1489260	NM_001126108.2(SLC12A3):c.1196G>A (p.Arg399His)	SLC12A3 (R398H +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 1488711	NM_001126108.2(SLC12A3):c.1388G>A (p.Gly463Glu)	SLC12A3 (G462E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 1459728	NM_001126108.2(SLC12A3):c.2900C>T (p.Ser967Phe)	SLC12A3 (S967F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1459119	NM_001126108.2(SLC12A3):c.2720+1G>C	SLC12A3	Single nucleotide variant (splice donor variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 1458237	NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His)	SLC12A3 (R861H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1458231	NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr)	SLC12A3 (C421Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1455492	NM_001126108.2(SLC12A3):c.1674G>A (p.Trp558Ter)	SLC12A3 (W557* +1 more)	Single nucleotide variant (nonsense)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 1454114	NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val)	SLC12A3 (G315V +1 more)	Single nucleotide variant (missense variant)	not provided +1 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)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
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 1408401	NM_001126108.2(SLC12A3):c.602G>T (p.Gly201Val)	SLC12A3 (G201V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 1397263	NM_001126108.2(SLC12A3):c.2717_2720dup (p.His907fs)	SLC12A3 (H915fs +2 more)	Duplication (frameshift variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 1393569	NM_001126108.2(SLC12A3):c.1568-1G>A	SLC12A3	Single nucleotide variant (splice acceptor variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 1385271	NM_001126108.2(SLC12A3):c.88G>T (p.Glu30Ter)	SLC12A3 (E30*)	Single nucleotide variant (nonsense)	Familial hypokalemia-hypomagnesemia +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 1382757	NM_001126108.2(SLC12A3):c.964+1G>A	SLC12A3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1376627	NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg)	SLC12A3 (L738R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1339518	NM_001126108.2(SLC12A3):c.43_44del (p.Leu15fs)	SLC12A3 (L15fs)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1339514	NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)	IDUA (L491P +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GPathogenic/Likely pathogenic
Select item 1338995	NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter)	SLC12A3 (R887* +2 more)	Single nucleotide variant (nonsense)	Familial hypokalemia-hypomagnesemia	GPathogenic/Likely pathogenic
Select item 1332700	NM_001126108.2(SLC12A3):c.1465T>C (p.Tyr489His)	SLC12A3 (Y488H +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1331704	NM_001126108.2(SLC12A3):c.2911G>A (p.Ala971Thr)	SLC12A3 (A971T +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1330271	NM_001126108.2(SLC12A3):c.719A>G (p.Glu240Gly)	SLC12A3 (E239G +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1330263	NM_001126108.2(SLC12A3):c.1844C>G (p.Ser615Trp)	SLC12A3 (S614W +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GLikely pathogenic
Select item 1328532	NM_001126108.2(SLC12A3):c.1258G>A (p.Ala420Thr)	SLC12A3 (A419T +1 more)	Single nucleotide variant (missense variant)	SLC12A3-related disorder +3 more	GUncertain significance
Select item 1325074	NM_001126108.2(SLC12A3):c.983_1010del (p.Asn328fs)	SLC12A3 (N327fs +1 more)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1323600	NM_001126108.2(SLC12A3):c.329del (p.Ser110fs)	SLC12A3 (S109fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic

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