ClinVar for MedGen (Select 355430) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1695998	NM_057176.3(BSND):c.467C>A (p.Ala156Asp)	BSND (A156D)	Single nucleotide variant (missense variant)	Bartter disease type 4A +1 more	GUncertain significance
Select item 1695770	NM_057176.3(BSND):c.514G>A (p.Glu172Lys)	BSND (E172K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1693357	NM_057176.3(BSND):c.670C>A (p.Pro224Thr)	BSND (P224T)	Single nucleotide variant (missense variant)	Bartter disease type 4A +1 more	GUncertain significance
Select item 1416603	NM_057176.3(BSND):c.737C>T (p.Ala246Val)	BSND (A246V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1329051	NM_057176.3(BSND):c.673C>T (p.Gln225Ter)	BSND (Q225*)	Single nucleotide variant (nonsense)	not specified +2 more	GUncertain significance
Select item 1323985	NM_057176.3(BSND):c.97G>C (p.Val33Leu)	BSND (V33L)	Single nucleotide variant (missense variant)	Bartter disease type 4A +1 more	GPathogenic/Likely pathogenic
Select item 1311833	NM_057176.3(BSND):c.868A>G (p.Lys290Glu)	BSND (K290E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1256327	NM_057176.3(BSND):c.763G>C (p.Glu255Gln)	BSND (E255Q)	Single nucleotide variant (missense variant)	Bartter disease type 4A +1 more	GUncertain significance
Select item 1179115	GRCh37/hg19 1p32.3(chr1:55464606-55482845)	BSND	Copy number loss	Bartter disease type 4A	GPathogenic
Select item 1151192	NM_057176.3(BSND):c.501C>T (p.Gly167=)	BSND	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1114899	NM_057176.3(BSND):c.831G>A (p.Glu277=)	BSND	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1106323	NM_057176.3(BSND):c.411G>A (p.Gly137=)	BSND	Single nucleotide variant (synonymous variant)	Bartter disease type 4A +1 more	GLikely benign
Select item 1100449	NM_057176.3(BSND):c.288G>A (p.Pro96=)	BSND	Single nucleotide variant (synonymous variant)	Bartter disease type 4A +1 more	GLikely benign
Select item 1086153	NM_057176.3(BSND):c.546C>T (p.Pro182=)	BSND	Single nucleotide variant (synonymous variant)	Bartter disease type 4A +1 more	GLikely benign
Select item 1064565	NM_057176.3(BSND):c.64G>A (p.Gly22Ser)	BSND (G22S)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GUncertain significance
Select item 992426	NM_057176.3(BSND):c.64G>C (p.Gly22Arg)	BSND (G22R)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GUncertain significance
Select item 929993	NM_057176.3(BSND):c.287C>T (p.Pro96Leu)	BSND (P96L)	Single nucleotide variant (missense variant)	Bartter disease type 4A +1 more	GUncertain significance
Select item 876317	NM_057176.3(BSND):c.294T>C (p.Tyr98=)	BSND	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876316	NM_057176.3(BSND):c.261C>T (p.Ala87=)	BSND	Single nucleotide variant (synonymous variant)	Bartter disease type 4A +1 more	GConflicting classifications of pathogenicity
Select item 876227	NM_057176.3(BSND):c.*56T>C	BSND	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 4A	GUncertain significance
Select item 875271	NM_057176.3(BSND):c.*15G>A	BSND	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 4A	GUncertain significance
Select item 875270	NM_057176.3(BSND):c.*6T>C	BSND	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 4A	GUncertain significance
Select item 875269	NM_057176.3(BSND):c.758C>T (p.Pro253Leu)	BSND (P253L)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GUncertain significance
Select item 875268	NM_057176.3(BSND):c.635A>G (p.Asn212Ser)	BSND (N212S)	Single nucleotide variant (missense variant)	Bartter disease type 4A +1 more	GUncertain significance
Select item 874344	NM_057176.3(BSND):c.393G>T (p.Leu131Phe)	BSND (L131F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 874343	NM_057176.3(BSND):c.306G>T (p.Trp102Cys)	BSND (W102C)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GUncertain significance
Select item 837720	NM_057176.3(BSND):c.272+1G>T	BSND	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 795039	NM_057176.3(BSND):c.282C>T (p.Pro94=)	BSND	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 765465	NM_057176.3(BSND):c.9C>T (p.Asp3=)	BSND	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 740286	NM_057176.3(BSND):c.547G>A (p.Gly183Ser)	BSND (G183S)	Single nucleotide variant (missense variant)	Bartter disease type 4A +1 more	GConflicting classifications of pathogenicity
Select item 709547	NM_057176.3(BSND):c.548+10T>C	BSND	Single nucleotide variant (intron variant)	Bartter disease type 4A +1 more	GLikely benign
Select item 667197	NM_057176.3(BSND):c.10G>A (p.Glu4Lys)	BSND (E4K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 667072	NM_057176.3(BSND):c.225A>G (p.Pro75=)	BSND	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 634810	NM_057176.3(BSND):c.52C>G (p.Leu18Val)	BSND (L18V)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GUncertain significance
Select item 631609	NM_057176.3(BSND):c.402del (p.Glu135fs)	BSND (E135fs)	Deletion (frameshift variant)	Bartter disease type 4A	GUncertain significance
Select item 620144	NM_057176.3(BSND):c.262G>T (p.Glu88Ter)	BSND (E88*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 590851	NM_057176.3(BSND):c.452del (p.Pro151fs)	BSND (P151fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 517488	NM_057176.3(BSND):c.770A>G (p.Gln257Arg)	BSND (Q257R)	Single nucleotide variant (missense variant)	Bartter disease type 4A +2 more	GUncertain significance
Select item 505827	NM_057176.3(BSND):c.810C>T (p.Tyr270=)	BSND	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 505171	NM_057176.3(BSND):c.859G>T (p.Glu287Ter)	BSND (E287*)	Single nucleotide variant (nonsense)	not specified +3 more	GUncertain significance
Select item 297682	NM_057176.3(BSND):c.*94A>G	BSND	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297681	NM_057176.3(BSND):c.*24A>C	BSND	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 4A +1 more	GBenign
Select item 297680	NM_057176.3(BSND):c.713T>A (p.Phe238Tyr)	BSND (F238Y)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GUncertain significance
Select item 297679	NM_057176.3(BSND):c.696G>A (p.Arg232=)	BSND	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297678	NM_057176.3(BSND):c.604G>A (p.Asp202Asn)	BSND (D202N)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GUncertain significance
Select item 297677	NM_057176.3(BSND):c.216C>A (p.Ile72=)	BSND	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297676	NM_057176.3(BSND):c.-25C>T	BSND	Single nucleotide variant (5 prime UTR variant)	Bartter disease type 4A +1 more	GBenign/Likely benign
Select item 297675	NM_057176.3(BSND):c.-34G>A	BSND	Single nucleotide variant (5 prime UTR variant)	Bartter disease type 4A	GUncertain significance
Select item 297674	NM_057176.3(BSND):c.-70C>G	BSND	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 297673	NM_057176.3(BSND):c.-117T>C	BSND	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 297672	NM_057176.3(BSND):c.-156G>C	BSND	Single nucleotide variant (5 prime UTR variant)	Bartter disease type 4A	GBenign
Select item 297671	NM_057176.3(BSND):c.-175C>T	BSND	Single nucleotide variant (5 prime UTR variant)	Bartter disease type 4A	GUncertain significance
Select item 297670	NM_057176.3(BSND):c.-241G>A	BSND, LOC129930596	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 290808	NM_057176.3(BSND):c.16A>G (p.Thr6Ala)	BSND (T6A)	Single nucleotide variant (missense variant)	Bartter disease type 4A +2 more	GConflicting classifications of pathogenicity
Select item 228463	NM_057176.3(BSND):c.482C>T (p.Ala161Val)	BSND (A161V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 227191	NM_057176.3(BSND):c.309G>C (p.Glu103Asp)	BSND (E103D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 227189	NM_057176.3(BSND):c.183C>T (p.Thr61=)	BSND	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 227188	NM_057176.3(BSND):c.102C>T (p.Tyr34=)	BSND	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 226466	NM_057176.3(BSND):c.597T>C (p.Asp199=)	BSND	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 226465	NM_057176.3(BSND):c.459C>T (p.Asp153=)	BSND	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 225307	NM_057176.3(BSND):c.893G>A (p.Gly298Glu)	BSND (G298E)	Single nucleotide variant (missense variant)	Bartter disease type 4A +1 more	GConflicting classifications of pathogenicity
Select item 178291	NM_057176.3(BSND):c.457G>A (p.Asp153Asn)	BSND (D153N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 162807	NM_057176.3(BSND):c.872A>G (p.Glu291Gly)	BSND (E291G)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 46553	NM_057176.3(BSND):c.924G>A (p.Pro308=)	BSND	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 46552	NM_057176.3(BSND):c.917T>C (p.Leu306Pro)	BSND (L306P)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46550	NM_057176.3(BSND):c.63C>T (p.Leu21=)	BSND	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 46549	NM_057176.3(BSND):c.189C>T (p.Val63=)	BSND	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 46547	NM_057176.3(BSND):c.177+15G>C	BSND	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 46546	NM_057176.3(BSND):c.177+11G>A	BSND	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 46545	NM_057176.3(BSND):c.127G>A (p.Val43Ile)	BSND (V43I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 4389	NM_057176.3(BSND):c.10G>T (p.Glu4Ter)	BSND (E4*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 4388	NM_057176.3(BSND):c.35T>C (p.Ile12Thr)	BSND (I12T)	Single nucleotide variant (missense variant)	Bartter syndrome +2 more	GConflicting classifications of pathogenicity
Select item 4387	NM_057176.3(BSND):c.139G>A (p.Gly47Arg)	BSND (G47R)	Single nucleotide variant (missense variant)	BSND-related condition +2 more	GPathogenic
Select item 4386	NM_057176.3(BSND):c.23G>T (p.Arg8Leu)	BSND (R8L)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GPathogenic
Select item 4385	NM_057176.3(BSND):c.28G>A (p.Gly10Ser)	BSND (G10S)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GPathogenic
Select item 4384	NM_057176.3(BSND):c.3G>A (p.Met1Ile)	BSND (M1I)	Single nucleotide variant (missense variant +1 more)	Bartter disease type 4A +1 more	GPathogenic/Likely pathogenic
Select item 4383	NM_057176.3(BSND):c.273-887_*576del	BSND	Deletion (splice acceptor variant +1 more)	Bartter disease type 4A	GPathogenic
Select item 4382	NM_057176.3(BSND):c.157_177+20del	BSND	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 4381	NM_057176.3(BSND):c.22C>T (p.Arg8Trp)	BSND (R8W)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GPathogenic/Likely pathogenic
Select item 4380	NM_057176.3(BSND):c.1A>T (p.Met1Leu)	BSND (M1L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic

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Items: 80