6557[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
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 316251	NM_000338.3(SLC12A1):c.-113A>C	SLC12A1	Single nucleotide variant (5 prime UTR variant)	Bartter disease type 1	GUncertain significance
Select item 316252	NM_000338.3(SLC12A1):c.-100C>T	SLC12A1	Single nucleotide variant (5 prime UTR variant)	Bartter disease type 1	GUncertain significance
Select item 886273	NM_000338.3(SLC12A1):c.-68G>T	SLC12A1	Single nucleotide variant (5 prime UTR variant)	Bartter disease type 1	GLikely benign
Select item 2996319	NM_000338.3(SLC12A1):c.7C>T (p.Leu3=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64405	NM_000338.3(SLC12A1):c.13A>G (p.Asn5Asp)	CTXN2-AS1, SLC12A1 (N5D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911168	NM_000338.3(SLC12A1):c.14A>G (p.Asn5Ser)	SLC12A1 (N5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1056225	NM_000338.3(SLC12A1):c.26T>C (p.Val9Ala)	SLC12A1 (V9A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2387586	NM_000338.3(SLC12A1):c.50A>G (p.Asn17Ser)	SLC12A1 (N17S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2761495	NM_000338.3(SLC12A1):c.51T>C (p.Asn17=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2840113	NM_000338.3(SLC12A1):c.64C>T (p.Gln22Ter)	SLC12A1 (Q22*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 778549	NM_000338.3(SLC12A1):c.71G>A (p.Ser24Asn)	SLC12A1 (S24N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2909540	NM_000338.3(SLC12A1):c.72T>C (p.Ser24=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1979319	NM_000338.3(SLC12A1):c.88C>G (p.His30Asp)	SLC12A1 (H30D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2898446	NM_000338.3(SLC12A1):c.90T>C (p.His30=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3318803	NM_000338.3(SLC12A1):c.91G>A (p.Glu31Lys)	SLC12A1 (E31K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1495641	NM_000338.3(SLC12A1):c.110A>G (p.Asp37Gly)	SLC12A1 (D37G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375998	NM_000338.3(SLC12A1):c.118A>G (p.Thr40Ala)	SLC12A1 (T40A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2814020	NM_000338.3(SLC12A1):c.135T>C (p.Tyr45=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768225	NM_000338.3(SLC12A1):c.138A>G (p.Glu46=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2220240	NM_000338.3(SLC12A1):c.170G>C (p.Arg57Thr)	SLC12A1 (R57T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2800345	NM_000338.3(SLC12A1):c.186dup (p.Arg63Ter)	SLC12A1 (R63*)	Duplication (nonsense)	not provided	GPathogenic
Select item 778550	NM_000338.3(SLC12A1):c.189G>A (p.Arg63=)	SLC12A1	Single nucleotide variant (synonymous variant)	Bartter disease type 1 +1 more	GBenign/Likely benign
Select item 1331602	NM_000338.3(SLC12A1):c.200A>G (p.Gln67Arg)	SLC12A1 (Q67R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 754887	NM_000338.3(SLC12A1):c.201G>A (p.Gln67=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708586	NM_000338.3(SLC12A1):c.206G>T (p.Cys69Phe)	SLC12A1 (C69F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 586597	NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr)	SLC12A1 (C69Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2793663	NM_000338.3(SLC12A1):c.210T>C (p.Tyr70=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186093	NM_000338.3(SLC12A1):c.216T>C (p.Asn72=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342020	NM_000338.3(SLC12A1):c.223C>T (p.Gln75Ter)	SLC12A1 (Q75*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2872267	NM_000338.3(SLC12A1):c.224A>G (p.Gln75Arg)	SLC12A1 (Q75R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2747185	NM_000338.3(SLC12A1):c.246A>C (p.Thr82=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2360487	NM_000338.3(SLC12A1):c.251C>G (p.Ala84Gly)	SLC12A1 (A84G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3012692	NM_000338.3(SLC12A1):c.261C>T (p.His87=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 805464	NM_000338.3(SLC12A1):c.262G>A (p.Ala88Thr)	SLC12A1 (A88T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2765837	NM_000338.3(SLC12A1):c.267T>C (p.Tyr89=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441345	NM_000338.3(SLC12A1):c.281A>G (p.Asn94Ser)	SLC12A1 (N94S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816201	NM_000338.3(SLC12A1):c.292C>T (p.Leu98=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002341	NM_000338.3(SLC12A1):c.297A>G (p.Gln99=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799768	NM_000338.3(SLC12A1):c.300T>A (p.Thr100=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695897	NM_000338.3(SLC12A1):c.303T>C (p.Phe101=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887050	NM_000338.3(SLC12A1):c.324C>T (p.Ala108=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2381542	NM_000338.3(SLC12A1):c.325G>A (p.Val109Ile)	SLC12A1 (V109I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2976777	NM_000338.3(SLC12A1):c.330C>T (p.Pro110=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 445491	NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)	SLC12A1 (R116H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2966370	NM_000338.3(SLC12A1):c.354C>G (p.Thr118=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752824	NM_000338.3(SLC12A1):c.354C>T (p.Thr118=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 316253	NM_000338.3(SLC12A1):c.355G>A (p.Gly119Ser)	SLC12A1 (G119S)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 2987288	NM_000338.3(SLC12A1):c.360C>T (p.Ser120=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012322	NM_000338.3(SLC12A1):c.372C>T (p.Pro124=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2494174	NM_000338.3(SLC12A1):c.377T>C (p.Val126Ala)	SLC12A1 (V126A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 316254	NM_000338.3(SLC12A1):c.381C>T (p.Asn127=)	SLC12A1	Single nucleotide variant (synonymous variant)	Bartter disease type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1320258	NM_000338.3(SLC12A1):c.382C>T (p.Arg128Ter)	SLC12A1 (R128*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 64410	NM_000338.3(SLC12A1):c.386C>T (p.Pro129Leu)	CTXN2-AS1, SLC12A1 (P129L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475377	NM_000338.3(SLC12A1):c.394C>T (p.Leu132Phe)	SLC12A1 (L132F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2241917	NM_000338.3(SLC12A1):c.397G>A (p.Glu133Lys)	SLC12A1 (E133K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3001942	NM_000338.3(SLC12A1):c.405C>T (p.His135=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186515	NM_000338.3(SLC12A1):c.406G>A (p.Glu136Lys)	SLC12A1 (E136K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2240525	NM_000338.3(SLC12A1):c.408_410del (p.Gln137del)	SLC12A1 (Q137del)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 1965772	NM_000338.3(SLC12A1):c.414C>T (p.Leu138=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785487	NM_000338.3(SLC12A1):c.415G>A (p.Ala139Thr)	SLC12A1 (A139T)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GBenign
Select item 1942433	NM_000338.3(SLC12A1):c.418A>C (p.Lys140Gln)	SLC12A1 (K140Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843532	NM_000338.3(SLC12A1):c.420+13G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187225	NM_000338.3(SLC12A1):c.420+57C>G	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788088	NM_000338.3(SLC12A1):c.421-19T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604579	NM_000338.3(SLC12A1):c.421-15A>G	SLC12A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2974405	NM_000338.3(SLC12A1):c.421-14T>C	SLC12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1804675	NM_000338.3(SLC12A1):c.421-1G>A	SLC12A1	Single nucleotide variant (splice acceptor variant)	Bartter syndrome	GLikely pathogenic
Select item 1401401	NM_000338.3(SLC12A1):c.425T>C (p.Val142Ala)	SLC12A1 (V142A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851593	NM_000338.3(SLC12A1):c.426G>A (p.Val142=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 887269	NM_000338.3(SLC12A1):c.434C>A (p.Thr145Asn)	SLC12A1 (T145N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 316255	NM_000338.3(SLC12A1):c.445G>A (p.Ala149Thr)	SLC12A1 (A149T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2731628	NM_000338.3(SLC12A1):c.450_451del (p.Asp150fs)	SLC12A1 (D150fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2998036	NM_000338.3(SLC12A1):c.450C>T (p.Asp150=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 887270	NM_000338.3(SLC12A1):c.462C>T (p.Asn154=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887271	NM_000338.3(SLC12A1):c.463G>A (p.Gly155Ser)	SLC12A1 (G155S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2976330	NM_000338.3(SLC12A1):c.467A>G (p.Asp156Gly)	SLC12A1 (D156G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766420	NM_000338.3(SLC12A1):c.468T>C (p.Asp156=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1093523	NM_000338.3(SLC12A1):c.477T>C (p.Pro159=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3348869	NM_000338.3(SLC12A1):c.479G>T (p.Gly160Val)	SLC12A1 (G160V)	Single nucleotide variant (missense variant)	SLC12A1-related disorder	GUncertain significance
Select item 2699704	NM_000338.3(SLC12A1):c.483T>C (p.Asp161=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2234347	NM_000338.3(SLC12A1):c.483T>G (p.Asp161Glu)	SLC12A1 (D161E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2007186	NM_000338.3(SLC12A1):c.487C>G (p.Gln163Glu)	SLC12A1 (Q163E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2913697	NM_000338.3(SLC12A1):c.492T>G (p.Ala164=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 316256	NM_000338.3(SLC12A1):c.497A>G (p.Asn166Ser)	SLC12A1 (N166S)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 64411	NM_000338.3(SLC12A1):c.503A>G (p.Glu168Gly)	CTXN2-AS1, SLC12A1 (E168G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2527425	NM_000338.3(SLC12A1):c.506A>T (p.Asp169Val)	SLC12A1 (D169V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 64412	NM_000338.3(SLC12A1):c.510T>A (p.Asp170Glu)	CTXN2-AS1, SLC12A1 (D170E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994769	NM_000338.3(SLC12A1):c.513A>C (p.Gln171His)	SLC12A1 (Q171H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2853515	NM_000338.3(SLC12A1):c.516T>C (p.Ala172=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2207839	NM_000338.3(SLC12A1):c.517G>A (p.Gly173Ser)	SLC12A1 (G173S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2765181	NM_000338.3(SLC12A1):c.524_525del (p.Val175fs)	SLC12A1 (V175fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3012382	NM_000338.3(SLC12A1):c.528G>A (p.Lys176=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003310	NM_000338.3(SLC12A1):c.530_531dup (p.Gly178fs)	SLC12A1 (G178fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1428337	NM_000338.3(SLC12A1):c.528G>C (p.Lys176Asn)	SLC12A1 (K176N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248631	NM_000338.3(SLC12A1):c.548T>A (p.Val183Glu)	SLC12A1 (V183E)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic

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