C1865270[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 297671	NM_057176.3(BSND):c.-175C>T	BSND	Single nucleotide variant (5 prime UTR variant)	Bartter disease type 4A	GUncertain significance
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 297673	NM_057176.3(BSND):c.-117T>C	BSND	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
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 297675	NM_057176.3(BSND):c.-34G>A	BSND	Single nucleotide variant (5 prime UTR variant)	Bartter disease type 4A	GUncertain significance
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 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 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 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 46550	NM_057176.3(BSND):c.63C>T (p.Leu21=)	BSND	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 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 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 46546	NM_057176.3(BSND):c.177+11G>A	BSND	Single nucleotide variant (intron variant)	not specified +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 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 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 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 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 227191	NM_057176.3(BSND):c.309G>C (p.Glu103Asp)	BSND (E103D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 631609	NM_057176.3(BSND):c.402del (p.Glu135fs)	BSND (E135fs)	Deletion (frameshift variant)	Bartter disease type 4A	GUncertain significance
Select item 178291	NM_057176.3(BSND):c.457G>A (p.Asp153Asn)	BSND (D153N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 505171	NM_057176.3(BSND):c.859G>T (p.Glu287Ter)	BSND (E287*)	Single nucleotide variant (nonsense)	Bartter disease type 4A +3 more	GUncertain significance
Select item 46552	NM_057176.3(BSND):c.917T>C (p.Leu306Pro)	BSND (L306P)	Single nucleotide variant (missense variant)	Bartter disease type 4A +3 more	GConflicting classifications of pathogenicity
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 875270	NM_057176.3(BSND):c.*6T>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 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 876227	NM_057176.3(BSND):c.*56T>C	BSND	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 4A	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

ClinVar

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Items: 40