"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC12A1"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1342020	NM_000338.3(SLC12A1):c.223C>T (p.Gln75Ter)	SLC12A1 (Q75*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 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 1604579	NM_000338.3(SLC12A1):c.421-15A>G	SLC12A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 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 448390	NM_000338.3(SLC12A1):c.708C>T (p.Asn236=)	SLC12A1	Single nucleotide variant (synonymous variant +1 more)	Bartter disease type 1 +2 more	GBenign/Likely benign
Select item 888525	NM_000338.3(SLC12A1):c.760C>G (p.Pro254Ala)	SLC12A1 (P254A)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GUncertain significance
Select item 888526	NM_000338.3(SLC12A1):c.807A>G (p.Ala269=)	SLC12A1	Single nucleotide variant (synonymous variant)	Bartter disease type 1 +1 more	GConflicting classifications of pathogenicity
Select item 805467	NM_000338.3(SLC12A1):c.816T>C (p.Val272=)	SLC12A1	Single nucleotide variant (synonymous variant)	Bartter disease type 1 +1 more	GLikely benign
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 884309	NM_000338.3(SLC12A1):c.1216-13T>A	SLC12A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 1343249	NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln)	SLC12A1 (R439Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1039761	NM_000338.3(SLC12A1):c.1355G>C (p.Gly452Ala)	SLC12A1 (G452A)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GUncertain significance
Select item 751575	NM_000338.3(SLC12A1):c.1561-8T>G	SLC12A1	Single nucleotide variant (intron variant)	Bartter disease type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1635705	NM_000338.3(SLC12A1):c.1653T>G (p.Thr551=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1538932	NM_000338.3(SLC12A1):c.1786+18C>T	SLC12A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 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 1008553	NM_000338.3(SLC12A1):c.1981G>A (p.Val661Met)	SLC12A1 (V661M)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GUncertain significance
Select item 778098	NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=)	SLC12A1	Single nucleotide variant (synonymous variant)	Bartter disease type 1 +1 more	GBenign/Likely benign
Select item 1599811	NM_000338.3(SLC12A1):c.2095G>A (p.Asp699Asn)	SLC12A1 (D699N)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GBenign/Likely benign
Select item 714653	NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=)	SLC12A1	Single nucleotide variant (synonymous variant)	Bartter disease type 1 +1 more	GBenign/Likely benign
Select item 316265	NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val)	SLC12A1 (A733V)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GBenign/Likely benign
Select item 1491442	NM_000338.3(SLC12A1):c.2206C>A (p.Gln736Lys)	SLC12A1 (Q736K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1132917	NM_000338.3(SLC12A1):c.2223G>A (p.Lys741=)	SLC12A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 872708	NM_000338.3(SLC12A1):c.2242del (p.Tyr748fs)	SLC12A1 (Y748fs)	Deletion (frameshift variant)	Bartter disease type 1 +1 more	GPathogenic
Select item 316268	NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val)	SLC12A1 (A752V)	Single nucleotide variant (missense variant)	Bartter disease type 1 +9 more	GUncertain significance
Select item 755978	NM_000338.3(SLC12A1):c.2281C>A (p.Arg761=)	SLC12A1	Single nucleotide variant (synonymous variant)	Bartter disease type 1 +1 more	GLikely benign
Select item 1034167	NM_000338.3(SLC12A1):c.2282G>A (p.Arg761Gln)	SLC12A1 (R761Q)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 953927	NM_000338.3(SLC12A1):c.2342A>G (p.Tyr781Cys)	SLC12A1 (Y781C)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GUncertain significance
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 586599	NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg)	SLC12A1 (I812R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 316270	NM_000338.3(SLC12A1):c.2435T>C (p.Ile812Thr)	SLC12A1 (I812T)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GUncertain significance
Select item 1400238	NM_000338.3(SLC12A1):c.2507A>T (p.Gln836Leu)	SLC12A1 (Q836L)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	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 970994	NM_000338.3(SLC12A1):c.2573G>T (p.Arg858Leu)	SLC12A1 (R858L)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GUncertain significance
Select item 1299395	NM_000338.3(SLC12A1):c.2653T>C (p.Ser885Pro)	SLC12A1 (S885P)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 1440185	NM_000338.3(SLC12A1):c.2654C>T (p.Ser885Leu)	SLC12A1 (S885L)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GUncertain significance
Select item 1374104	NM_000338.3(SLC12A1):c.2852G>A (p.Arg951His)	SLC12A1 (R951H)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GUncertain significance
Select item 1482993	NM_000338.3(SLC12A1):c.2953A>G (p.Lys985Glu)	SLC12A1 (K985E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1446077	NM_000338.3(SLC12A1):c.3053C>T (p.Pro1018Leu)	SLC12A1 (P1018L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 1357196	NM_000338.3(SLC12A1):c.3256C>A (p.Leu1086Ile)	SLC12A1 (L1086I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 52