ClinVar for MedGen (Select 2172) - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2826934	NM_024596.5(MCPH1):c.595C>T (p.Gln199Ter)	MCPH1 (Q151* +3 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive primary microcephaly +2 more	GPathogenic
Select item 2506156	NM_153766.3(KCNJ1):c.472G>A (p.Ala158Thr)	KCNJ1 (A158T +2 more)	Single nucleotide variant (missense variant)	Bartter syndrome	GLikely pathogenic
Select item 2501068	NM_000338.3(SLC12A1):c.2719delinsCA (p.Glu907fs)	SLC12A1 (E907fs)	Indel (frameshift variant)	Bartter syndrome	GLikely pathogenic
Select item 2445952	NM_153766.3(KCNJ1):c.6_55del (p.Phe2fs)	KCNJ1 (F19fs +2 more)	Deletion (frameshift variant)	Bartter syndrome	GLikely pathogenic
Select item 2055600	NM_000085.5(CLCNKB):c.1313G>A (p.Arg438His)	CLCNKB, LOC106501713 (R269H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1932749	NM_000338.3(SLC12A1):c.975+1G>A	SLC12A1	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 1878351	NM_000338.3(SLC12A1):c.2741G>A (p.Trp914Ter)	SLC12A1 (W914*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1804675	NM_000338.3(SLC12A1):c.421-1G>A	SLC12A1	Single nucleotide variant (splice acceptor variant)	Bartter syndrome	GLikely pathogenic
Select item 1804660	NM_153766.3(KCNJ1):c.874C>T (p.Arg292Trp)	KCNJ1 (R292W +2 more)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GPathogenic
Select item 1804164	NM_001126108.2(SLC12A3):c.[1315G>A];[2856+1G>T]			Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 1704494	NM_000338.3(SLC12A1):c.1685-2A>G	SLC12A1	Single nucleotide variant (splice acceptor variant)	Bartter syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1683231	NM_153766.3(KCNJ1):c.887T>G (p.Val296Gly)	KCNJ1 (V296G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 1256327	NM_057176.3(BSND):c.763G>C (p.Glu255Gln)	BSND (E255Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 990160	NM_057176.3(BSND):c.915C>A (p.Asp305Glu)	BSND (D305E)	Single nucleotide variant (missense variant)	Bartter syndrome	GUncertain significance
Select item 990159	NM_057176.3(BSND):c.214A>T (p.Ile72Phe)	BSND (I72F)	Single nucleotide variant (missense variant)	Bartter syndrome	GUncertain significance
Select item 990158	NM_057176.3(BSND):c.27C>T (p.Ile9=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 988205	NM_001126108.2(SLC12A3):c.1486G>T (p.Gly496Cys)	SLC12A3 (G495C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988204	NM_001126108.2(SLC12A3):c.1378G>A (p.Gly460Ser)	SLC12A3 (G459S +1 more)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GUncertain significance
Select item 988172	NM_000339.2:c.(2951+1_2952-1)_(*1_?)del	SLC12A3	Deletion	Bartter syndrome +1 more	GPathogenic
Select item 988171	NM_001126108.2(SLC12A3):c.2207A>T (p.Asn736Ile)	SLC12A3 (N735I +1 more)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GUncertain significance
Select item 988170	NM_001126108.2(SLC12A3):c.1636A>G (p.Ser546Gly)	SLC12A3 (S545G +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 988130	NM_001126108.2(SLC12A3):c.427A>G (p.Met143Val)	SLC12A3 (M142V +1 more)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GUncertain significance
Select item 988129	NM_000338.3(SLC12A1):c.1970C>T (p.Ala657Val)	SLC12A1 (A657V)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GUncertain significance
Select item 988128	NM_000388.4(CASR):c.2710G>C (p.Gly904Arg)	CASR (G904R +1 more)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GUncertain significance
Select item 988127	NM_000338.3(SLC12A1):c.610G>T (p.Val204Phe)	SLC12A1, CTXN2-AS1 (V204F)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	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 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 872043	NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)	KCNJ1 (L218F +2 more)	Single nucleotide variant (missense variant)	Bartter syndrome +2 more	GConflicting classifications of pathogenicity
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 835523	NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter)	LOC126862361, SLC12A3 (R1009* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 834760	NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter)	SLC12A3 (Y437* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 817609	NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs)	SLC12A3 (T7fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 793850	NM_057176.3(BSND):c.237C>T (p.Gly79=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 759251	NM_057176.3(BSND):c.417G>A (p.Pro139=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750466	NM_057176.3(BSND):c.843G>A (p.Ser281=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745086	NM_057176.3(BSND):c.126C>T (p.Ser42=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741889	NM_057176.3(BSND):c.393G>A (p.Leu131=)	BSND	Single nucleotide variant (synonymous variant)	not provided	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 739077	NM_057176.3(BSND):c.69G>A (p.Thr23=)	BSND	Single nucleotide variant (synonymous variant)	BSND-related disorder +1 more	GLikely benign
Select item 722781	NM_057176.3(BSND):c.141G>C (p.Gly47=)	BSND	Single nucleotide variant (synonymous variant)	BSND-related disorder +1 more	GBenign/Likely benign
Select item 719930	NM_057176.3(BSND):c.909C>T (p.Ala303=)	BSND	Single nucleotide variant (synonymous variant)	not provided	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 666658	NM_057176.3(BSND):c.842C>T (p.Ser281Leu)	BSND (S281L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 631655	NM_153766.3(KCNJ1):c.155C>T (p.Thr52Met)	KCNJ1 (T52M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 596579	NM_057176.3(BSND):c.527G>A (p.Arg176His)	BSND (R176H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 595950	NM_057176.3(BSND):c.715C>T (p.Gln239Ter)	BSND (Q239*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 586605	NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)	LOC126862361, SLC12A3 (G989R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 586601	NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)	SLC12A3 (G439S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
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 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 448398	NM_001126108.2(SLC12A3):c.506-1G>A	SLC12A3	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 432478	NM_057176.3(BSND):c.572C>T (p.Pro191Leu)	BSND (P191L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 417863	NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	SLC12A3 (P643L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 372504	NM_001126108.2(SLC12A3):c.2856+1G>T	SLC12A3	Single nucleotide variant (splice donor variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 368877	NM_057176.3(BSND):c.*175C>G	BSND	Single nucleotide variant (3 prime UTR variant)	Bartter syndrome +1 more	GBenign
Select item 319919	NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp)	SLC12A3 (R964W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 285887	NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln)	SLC12A1 (R302Q)	Single nucleotide variant (missense variant)	Bartter syndrome +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 228461	NM_057176.3(BSND):c.409G>C (p.Gly137Arg)	BSND (G137R)	Single nucleotide variant (missense variant)	not specified	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 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 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 208612	NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	SLC12A3 (G741R +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +7 more	GPathogenic/Likely pathogenic
Select item 197365	NM_057176.3(BSND):c.744G>A (p.Thr248=)	BSND	Single nucleotide variant (synonymous variant)	not provided	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 specified +2 more	GBenign
Select item 46550	NM_057176.3(BSND):c.63C>T (p.Leu21=)	BSND	Single nucleotide variant (synonymous variant)	Bartter disease type 4A +2 more	GBenign
Select item 46549	NM_057176.3(BSND):c.189C>T (p.Val63=)	BSND	Single nucleotide variant (synonymous variant)	Bartter disease type 4A +2 more	GBenign/Likely benign
Select item 46545	NM_057176.3(BSND):c.127G>A (p.Val43Ile)	BSND (V43I)	Single nucleotide variant (missense variant)	Bartter disease type 4A +2 more	GBenign/Likely benign
Select item 9159	NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr)	KCNJ1 (A198T +2 more)	Single nucleotide variant (missense variant)	Bartter syndrome +2 more	GLikely pathogenic
Select item 8752	NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn)	LOC126862123, SLC12A1 (D648N)	Single nucleotide variant (missense variant)	Bartter syndrome +2 more	GConflicting classifications of pathogenicity
Select item 8588	NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	SLC12A3 (R655H +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
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)	not provided +2 more	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 4381	NM_057176.3(BSND):c.22C>T (p.Arg8Trp)	BSND (R8W)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GPathogenic/Likely pathogenic

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Items: 85