ClinVar for MedGen (Select 343428) - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068341	NM_153766.3(KCNJ1):c.899_900del (p.Val300fs)	KCNJ1 (V300fs +2 more)	Deletion (frameshift variant)	Bartter disease type 2	GLikely pathogenic
Select item 3068007	NM_153766.3(KCNJ1):c.240_242delinsCTT (p.Trp80_Tyr81delinsCysPhe)	KCNJ1	Indel (missense variant)	Bartter disease type 2	GLikely pathogenic
Select item 3064889	NM_153766.3(KCNJ1):c.240G>A (p.Trp80Ter)	KCNJ1 (W80* +2 more)	Single nucleotide variant (nonsense)	Bartter disease type 2	GLikely pathogenic
Select item 2689288	NM_153766.3(KCNJ1):c.215G>C (p.Ser72Thr)	KCNJ1 (S72T +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 2664766	NM_153766.3(KCNJ1):c.118C>T (p.Gln40Ter)	KCNJ1 (Q40* +2 more)	Single nucleotide variant (nonsense)	Bartter disease type 2	GLikely pathogenic
Select item 2664725	NM_153766.3(KCNJ1):c.241T>C (p.Tyr81His)	KCNJ1 (Y100H +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 2627549	NM_153766.3(KCNJ1):c.514A>C (p.Thr172Pro)	KCNJ1 (T172P +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GPathogenic
Select item 2572581	NM_153766.3(KCNJ1):c.361G>A (p.Val121Met)	KCNJ1 (V121M +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 2432999	NM_153766.3(KCNJ1):c.-9A>G	KCNJ1 (T15A +1 more)	Single nucleotide variant (missense variant +1 more)	Bartter disease type 2	GUncertain significance
Select item 2432998	NM_153766.3(KCNJ1):c.80A>G (p.Asp27Gly)	KCNJ1 (D27G +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 1809678	NM_153766.3(KCNJ1):c.*1C>G	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 1806150	NM_153766.3(KCNJ1):c.513G>T (p.Lys171Asn)	KCNJ1 (K171N +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 1806147	NM_153766.3(KCNJ1):c.302C>T (p.Pro101Leu)	KCNJ1 (P101L +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 1803985	NM_153766.3(KCNJ1):c.251C>T (p.Ala84Val)	KCNJ1 (A101V +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1519956	NM_153766.3(KCNJ1):c.-21-2122C>T	KCNJ1 (T11M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1450954	NM_153766.3(KCNJ1):c.1019T>G (p.Leu340Arg)	KCNJ1 (L359R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1418230	NM_153766.3(KCNJ1):c.298A>G (p.Thr100Ala)	KCNJ1 (T119A +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +2 more	GUncertain significance
Select item 1390397	NM_153766.3(KCNJ1):c.34C>T (p.Arg12Cys)	KCNJ1 (R12C +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +1 more	GUncertain significance
Select item 1362906	NM_153766.3(KCNJ1):c.506G>A (p.Arg169His)	KCNJ1 (R169H +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +1 more	GUncertain significance
Select item 1341767	NM_153766.3(KCNJ1):c.1001del (p.Pro334fs)	KCNJ1 (P334fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1333621	NM_153766.3(KCNJ1):c.550C>T (p.Arg184Trp)	KCNJ1 (R184W +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GLikely pathogenic
Select item 1011893	NM_153766.3(KCNJ1):c.505C>A (p.Arg169Ser)	KCNJ1 (R169S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 988597	NM_153766.3(KCNJ1):c.842C>G (p.Thr281Arg)	KCNJ1 (T281R +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 981532	NM_153766.3(KCNJ1):c.272C>T (p.Pro91Leu)	KCNJ1 (P108L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 935618	NM_153766.3(KCNJ1):c.1116G>A (p.Met372Ile)	KCNJ1 (M389I +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +1 more	GUncertain significance
Select item 879978	NM_153766.3(KCNJ1):c.87G>A (p.Arg29=)	KCNJ1	Single nucleotide variant (synonymous variant)	Bartter disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 879977	NM_153766.3(KCNJ1):c.156G>C (p.Thr52=)	KCNJ1	Single nucleotide variant (synonymous variant)	Bartter disease type 2	GUncertain significance
Select item 879618	NM_153766.3(KCNJ1):c.521C>T (p.Thr174Met)	KCNJ1 (T193M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879617	NM_153766.3(KCNJ1):c.706G>A (p.Ala236Thr)	KCNJ1 (A236T +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 879569	NM_153766.3(KCNJ1):c.*737T>C	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 879568	NM_153766.3(KCNJ1):c.*801C>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GLikely benign
Select item 879567	NM_153766.3(KCNJ1):c.*864G>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 879566	NM_153766.3(KCNJ1):c.*968T>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 878157	NM_153766.3(KCNJ1):c.798C>T (p.Thr266=)	KCNJ1	Single nucleotide variant (synonymous variant)	Bartter disease type 2	GUncertain significance
Select item 878156	NM_153766.3(KCNJ1):c.842C>T (p.Thr281Ile)	KCNJ1 (T300I +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +1 more	GUncertain significance
Select item 878155	NM_153766.3(KCNJ1):c.946G>A (p.Gly316Arg)	KCNJ1 (G333R +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 877184	NM_153766.3(KCNJ1):c.27C>T (p.Val9=)	KCNJ1	Single nucleotide variant (synonymous variant)	Bartter disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 877123	NM_153766.3(KCNJ1):c.*83G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	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 870375	NM_153766.3(KCNJ1):c.602T>G (p.Leu201Arg)	KCNJ1 (L220R +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GLikely pathogenic
Select item 870374	NM_153766.3(KCNJ1):c.551G>A (p.Arg184Gln)	KCNJ1 (R201Q +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GLikely pathogenic
Select item 845433	NM_153766.3(KCNJ1):c.578G>C (p.Arg193Pro)	KCNJ1 (R193P +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +1 more	GUncertain significance
Select item 834322	NM_153766.3(KCNJ1):c.-21-2138C>T	KCNJ1 (R6W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 790366	NM_153766.3(KCNJ1):c.252G>A (p.Ala84=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 735417	NM_153766.3(KCNJ1):c.798C>A (p.Thr266=)	KCNJ1	Single nucleotide variant (synonymous variant)	Bartter disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 694393	NM_153766.3(KCNJ1):c.504del (p.Lys168fs)	KCNJ1 (K168fs +2 more)	Deletion (frameshift variant)	Bartter disease type 2 +1 more	GPathogenic/Likely pathogenic
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 631654	NM_153766.3(KCNJ1):c.626G>A (p.Gly209Glu)	KCNJ1 (G209E +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 586076	NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter)	KCNJ1 (C289* +2 more)	Single nucleotide variant (nonsense)	Bartter disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 523794	NM_153766.3(KCNJ1):c.955C>T (p.Arg319Ter)	KCNJ1 (R319* +2 more)	Single nucleotide variant (nonsense)	Bartter disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 447632	NM_153766.3(KCNJ1):c.705C>T (p.Asp235=)	KCNJ1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 447631	NM_153766.3(KCNJ1):c.-21-2121G>A	KCNJ1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 373897	NM_153766.3(KCNJ1):c.262A>T (p.Lys88Ter)	KCNJ1 (K88* +2 more)	Single nucleotide variant (nonsense)	Bartter disease type 2	GPathogenic
Select item 303580	NM_153766.3(KCNJ1):c.-21-2258G>A	KCNJ1	Single nucleotide variant (intron variant)	Bartter disease type 2	GUncertain significance
Select item 303579	NM_153766.3(KCNJ1):c.-21-2197T>A	KCNJ1	Single nucleotide variant (5 prime UTR variant +1 more)	Bartter disease type 2	GUncertain significance
Select item 303578	NM_153766.3(KCNJ1):c.-21-2167T>C	KCNJ1	Single nucleotide variant (5 prime UTR variant +1 more)	Bartter disease type 2	GUncertain significance
Select item 303577	NM_153766.3(KCNJ1):c.17G>A (p.Arg6Gln)	KCNJ1 (R25Q +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 303576	NM_153766.3(KCNJ1):c.35G>A (p.Arg12His)	KCNJ1 (R12H +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 303574	NM_153766.3(KCNJ1):c.568C>T (p.Leu190Phe)	KCNJ1 (L190F +2 more)	Single nucleotide variant (missense variant)	KCNJ1-related condition +2 more	GLikely benign
Select item 303573	NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter)	KCNJ1 (R193* +2 more)	Single nucleotide variant (nonsense)	Bartter disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 303572	NM_153766.3(KCNJ1):c.732C>T (p.Ile244=)	KCNJ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 303571	NM_153766.3(KCNJ1):c.792G>A (p.Ala264=)	KCNJ1	Single nucleotide variant (synonymous variant)	Bartter disease type 2 +1 more	GBenign/Likely benign
Select item 303570	NM_153766.3(KCNJ1):c.837T>C (p.Asp279=)	KCNJ1	Single nucleotide variant (synonymous variant)	Bartter disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 303569	NM_153766.3(KCNJ1):c.923C>T (p.Pro308Leu)	KCNJ1 (P308L +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 303568	NM_153766.3(KCNJ1):c.*16G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 303566	NM_153766.3(KCNJ1):c.*88G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GLikely benign
Select item 303564	NM_153766.3(KCNJ1):c.*348C>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GBenign
Select item 303563	NM_153766.3(KCNJ1):c.*382G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 303562	NM_153766.3(KCNJ1):c.*452G>A	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 303560	NM_153766.3(KCNJ1):c.*507C>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GLikely benign
Select item 303559	NM_153766.3(KCNJ1):c.*553C>T	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 303555	NM_153766.3(KCNJ1):c.*964A>G	KCNJ1	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 2	GUncertain significance
Select item 235615	NM_153766.3(KCNJ1):c.1034A>G (p.Asp345Gly)	KCNJ1 (D345G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 225398	NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys)	KCNJ1 (R169C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 64392	NM_153766.3(KCNJ1):c.262A>G (p.Lys88Glu)	KCNJ1 (K88E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 64391	NM_153766.3(KCNJ1):c.242A>G (p.Tyr81Cys)	KCNJ1 (Y81C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 9162	NM_153766.3(KCNJ1):c.315T>A (p.Asn105Lys)	KCNJ1 (N105K +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GPathogenic
Select item 9161	NM_153766.3(KCNJ1):c.265G>C (p.Asp89His)	KCNJ1 (D108H +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GPathogenic
Select item 9160	NM_153766.3(KCNJ1):c.443G>A (p.Gly148Glu)	KCNJ1 (G167E +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GPathogenic
Select item 9159	NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr)	KCNJ1 (A198T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 9158	NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr)	KCNJ1 (M338T +2 more)	Single nucleotide variant (missense variant)	KCNJ1-related condition +3 more	GBenign/Likely benign
Select item 9157	NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val)	KCNJ1 (A195V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 9156	KCNJ1, TRP58TER	KCNJ1	Variation	Bartter disease type 2	GPathogenic
Select item 9155	NM_153766.3(KCNJ1):c.600C>G (p.Ser200Arg)	KCNJ1 (S200R +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 9154	NM_153766.3(KCNJ1):c.42dup (p.Gly15fs)	KCNJ1 (G15fs +2 more)	Duplication (frameshift variant)	Bartter disease type 2	GPathogenic
Select item 9153	NM_153766.3(KCNJ1):c.180C>G (p.Tyr60Ter)	KCNJ1 (Y60* +2 more)	Single nucleotide variant (nonsense)	Bartter disease type 2	GPathogenic

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Items: 86