C1855849[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 235615	NM_153766.3(KCNJ1):c.1034A>G (p.Asp345Gly)	KCNJ1 (D345G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1450954	NM_153766.3(KCNJ1):c.1019T>G (p.Leu340Arg)	KCNJ1 (L359R +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +2 more	GUncertain significance
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 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 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 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 872043	NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)	KCNJ1 (L218F +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 834322	NM_153766.3(KCNJ1):c.-21-2138C>T	KCNJ1 (R6W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance