C1866495[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 316254	NM_000338.3(SLC12A1):c.381C>T (p.Asn127=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 785487	NM_000338.3(SLC12A1):c.415G>A (p.Ala139Thr)	SLC12A1 (A139T)	Single nucleotide variant (missense variant)	Bartter disease type 1 +2 more	GBenign
Select item 887269	NM_000338.3(SLC12A1):c.434C>A (p.Thr145Asn)	SLC12A1 (T145N)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 316255	NM_000338.3(SLC12A1):c.445G>A (p.Ala149Thr)	SLC12A1 (A149T)	Single nucleotide variant (missense variant)	SLC12A1-related condition +3 more	GConflicting classifications of pathogenicity
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 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 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 888523	NM_000338.3(SLC12A1):c.716T>C (p.Val239Ala)	SLC12A1 (V239A)	Single nucleotide variant (missense variant +1 more)	Bartter disease type 1	GUncertain significance
Select item 888524	NM_000338.3(SLC12A1):c.724+15A>T	SLC12A1	Single nucleotide variant (intron variant)	Bartter disease type 1 +1 more	GConflicting classifications of pathogenicity
Select item 888525	NM_000338.3(SLC12A1):c.760C>G (p.Pro254Ala)	SLC12A1 (P254A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 888526	NM_000338.3(SLC12A1):c.807A>G (p.Ala269=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 888527	NM_000338.3(SLC12A1):c.1117C>T (p.Arg373Cys)	SLC12A1 (R373C)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GUncertain significance
Select item 730462	NM_000338.3(SLC12A1):c.1161T>C (p.Phe387=)	SLC12A1	Single nucleotide variant (synonymous variant)	Bartter disease type 1 +1 more	GConflicting classifications of pathogenicity
Select item 884309	NM_000338.3(SLC12A1):c.1216-13T>A	SLC12A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 316258	NM_000338.3(SLC12A1):c.1265C>T (p.Thr422Ile)	SLC12A1 (T422I)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
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 884311	NM_000338.3(SLC12A1):c.1494G>A (p.Ala498=)	SLC12A1	Single nucleotide variant (synonymous variant)	Bartter disease type 1 +1 more	GConflicting classifications of pathogenicity
Select item 242488	NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr)	SLC12A1 (A508T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 884312	NM_000338.3(SLC12A1):c.1536T>C (p.Leu512=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316259	NM_000338.3(SLC12A1):c.1560+10G>A	SLC12A1	Single nucleotide variant (intron variant)	Bartter disease type 1 +1 more	GConflicting classifications of pathogenicity
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 884313	NM_000338.3(SLC12A1):c.1686G>A (p.Ala562=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 316260	NM_000338.3(SLC12A1):c.1855G>A (p.Val619Ile)	LOC126862123, SLC12A1 (V619I)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GUncertain significance
Select item 886336	NM_000338.3(SLC12A1):c.1903G>A (p.Glu635Lys)	LOC126862123, SLC12A1 (E635K)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 316261	NM_000338.3(SLC12A1):c.1912C>T (p.Leu638Phe)	LOC126862123, SLC12A1 (L638F)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 64406	NM_000338.3(SLC12A1):c.1998T>C (p.Asn666=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316262	NM_000338.3(SLC12A1):c.2028C>T (p.His676=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 778098	NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=)	SLC12A1	Single nucleotide variant (synonymous variant)	SLC12A1-related condition +2 more	GBenign/Likely benign
Select item 316263	NM_000338.3(SLC12A1):c.2098A>C (p.Ile700Leu)	SLC12A1 (I700L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 316264	NM_000338.3(SLC12A1):c.2106C>T (p.His702=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 887330	NM_000338.3(SLC12A1):c.2155-10T>A	SLC12A1	Single nucleotide variant (intron variant)	Bartter disease type 1	GUncertain significance
Select item 714653	NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=)	SLC12A1	Single nucleotide variant (synonymous variant)	SLC12A1-related condition +2 more	GBenign/Likely benign
Select item 887331	NM_000338.3(SLC12A1):c.2195T>A (p.Met732Lys)	SLC12A1 (M732K)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
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 316266	NM_000338.3(SLC12A1):c.2199G>A (p.Ala733=)	SLC12A1	Single nucleotide variant (synonymous variant)	Bartter disease type 1 +1 more	GBenign/Likely benign
Select item 887332	NM_000338.3(SLC12A1):c.2209G>A (p.Ala737Thr)	SLC12A1 (A737T)	Single nucleotide variant (missense variant)	Bartter disease type 1 +2 more	GConflicting classifications of pathogenicity
Select item 316267	NM_000338.3(SLC12A1):c.2210C>T (p.Ala737Val)	SLC12A1 (A737V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 316268	NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val)	SLC12A1 (A752V)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 887519	NM_000338.3(SLC12A1):c.2272G>C (p.Asp758His)	SLC12A1 (D758H)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
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 887520	NM_000338.3(SLC12A1):c.2405A>G (p.Asp802Gly)	SLC12A1 (D802G)	Single nucleotide variant (missense variant)	Bartter disease type 1 +2 more	GUncertain significance
Select item 316270	NM_000338.3(SLC12A1):c.2435T>C (p.Ile812Thr)	SLC12A1 (I812T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887521	NM_000338.3(SLC12A1):c.2468A>C (p.Gln823Pro)	SLC12A1 (Q823P)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 316271	NM_000338.3(SLC12A1):c.2521T>C (p.Leu841=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887522	NM_000338.3(SLC12A1):c.2528C>T (p.Ala843Val)	SLC12A1 (A843V)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 887523	NM_000338.3(SLC12A1):c.2546A>G (p.Glu849Gly)	SLC12A1 (E849G)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 316272	NM_000338.3(SLC12A1):c.2607T>C (p.Ile869=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316273	NM_000338.3(SLC12A1):c.2630-7G>A	SLC12A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 884368	NM_000338.3(SLC12A1):c.2676C>T (p.Asn892=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316274	NM_000338.3(SLC12A1):c.2781C>G (p.Pro927=)	SLC12A1	Single nucleotide variant (synonymous variant)	Bartter disease type 1	GUncertain significance
Select item 884369	NM_000338.3(SLC12A1):c.2785A>G (p.Ile929Val)	SLC12A1 (I929V)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 316275	NM_000338.3(SLC12A1):c.2787C>T (p.Ile929=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 884370	NM_000338.3(SLC12A1):c.2825G>C (p.Arg942Thr)	SLC12A1 (R942T)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GUncertain significance
Select item 316276	NM_000338.3(SLC12A1):c.2854A>C (p.Ile952Leu)	SLC12A1 (I952L)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
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 886394	NM_000338.3(SLC12A1):c.2919C>G (p.Ile973Met)	SLC12A1 (I973M)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 316277	NM_000338.3(SLC12A1):c.2929G>A (p.Gly977Ser)	SLC12A1 (G977S)	Single nucleotide variant (missense variant)	Bartter disease type 1	GLikely benign
Select item 316278	NM_000338.3(SLC12A1):c.2943T>C (p.Ile981=)	SLC12A1	Single nucleotide variant (synonymous variant)	SLC12A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 316279	NM_000338.3(SLC12A1):c.2979G>A (p.Glu993=)	SLC12A1	Single nucleotide variant (synonymous variant)	Bartter disease type 1	GUncertain significance
Select item 753949	NM_000338.3(SLC12A1):c.3054G>A (p.Pro1018=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316280	NM_000338.3(SLC12A1):c.3096+7A>T	SLC12A1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 886395	NM_000338.3(SLC12A1):c.3103C>A (p.Arg1035Ser)	SLC12A1 (R1035S)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 316281	NM_000338.3(SLC12A1):c.3113G>A (p.Arg1038Gln)	SLC12A1 (R1038Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 887394	NM_000338.3(SLC12A1):c.3165-5A>T	SLC12A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 887395	NM_000338.3(SLC12A1):c.3206T>G (p.Leu1069Trp)	SLC12A1 (L1069W)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 316282	NM_000338.3(SLC12A1):c.*12T>C	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GUncertain significance
Select item 887396	NM_000338.3(SLC12A1):c.*40C>T	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GUncertain significance
Select item 316283	NM_000338.3(SLC12A1):c.*50A>C	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GUncertain significance
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 316287	NM_000338.3(SLC12A1):c.*136G>A	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GUncertain significance
Select item 316288	NM_000338.3(SLC12A1):c.*153T>C	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GUncertain significance
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 887582	NM_000338.3(SLC12A1):c.*216A>C	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GUncertain significance
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
Select item 884434	NM_000338.3(SLC12A1):c.*436C>G	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GUncertain significance
Select item 884435	NM_000338.3(SLC12A1):c.*496C>T	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GUncertain significance
Select item 316292	NM_000338.3(SLC12A1):c.*590T>C	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GUncertain significance
Select item 884436	NM_000338.3(SLC12A1):c.*593A>G	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GUncertain significance
Select item 884437	NM_000338.3(SLC12A1):c.*629G>A	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GUncertain significance
Select item 884438	NM_000338.3(SLC12A1):c.*862A>G	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GLikely benign
Select item 316293	NM_000338.3(SLC12A1):c.*921T>C	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GUncertain significance
Select item 885366	NM_000338.3(SLC12A1):c.*1042C>T	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GUncertain significance
Select item 316294	NM_000338.3(SLC12A1):c.*1084A>T	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GBenign
Select item 316295	NM_000338.3(SLC12A1):c.*1179A>T	SLC12A1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 1	GUncertain significance

ClinVar

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Items: 96