"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KCNK3"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1100377	NM_002246.3(KCNK3):c.99C>G (p.Pro33=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 962756	NM_002246.3(KCNK3):c.202C>T (p.Arg68Cys)	KCNK3 (R68C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1551604	NM_002246.3(KCNK3):c.309G>T (p.Thr103=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1084756	NM_002246.3(KCNK3):c.486C>T (p.Ile162=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 648112	NM_002246.3(KCNK3):c.618G>A (p.Val206=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GConflicting classifications of pathogenicity
Select item 474322	NM_002246.3(KCNK3):c.654G>T (p.Pro218=)	KCNK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 944079	NM_002246.3(KCNK3):c.746T>C (p.Met249Thr)	KCNK3 (M249T)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1158053	NM_002246.3(KCNK3):c.759C>T (p.Asp253=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1414198	NM_002246.3(KCNK3):c.802G>C (p.Gly268Arg)	KCNK3 (G268R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1354423	NM_002246.3(KCNK3):c.826G>A (p.Gly276Ser)	KCNK3 (G276S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 952122	NM_002246.3(KCNK3):c.827G>A (p.Gly276Asp)	KCNK3 (G276D)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 580390	NM_002246.3(KCNK3):c.834C>A (p.Ser278Arg)	KCNK3 (S278R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 575685	NM_002246.3(KCNK3):c.844A>G (p.Thr282Ala)	KCNK3 (T282A)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4 +1 more	GUncertain significance
Select item 935310	NM_002246.3(KCNK3):c.853G>A (p.Ala285Thr)	KCNK3 (A285T)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1002871	NM_002246.3(KCNK3):c.946A>G (p.Lys316Glu)	KCNK3 (K316E)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4 +1 more	GUncertain significance
Select item 569441	NM_002246.3(KCNK3):c.953G>A (p.Arg318His)	KCNK3 (R318H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1013806	NM_002246.3(KCNK3):c.991C>T (p.Arg331Trp)	KCNK3 (R331W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 541326	NM_002246.3(KCNK3):c.1014G>A (p.Thr338=)	KCNK3	Single nucleotide variant (synonymous variant)	Pulmonary hypertension, primary, 4	GLikely benign
Select item 1393826	NM_002246.3(KCNK3):c.1093G>A (p.Gly365Arg)	KCNK3 (G365R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1006500	NM_002246.3(KCNK3):c.1094G>A (p.Gly365Glu)	KCNK3 (G365E)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance
Select item 1023521	NM_002246.3(KCNK3):c.1162A>G (p.Met388Val)	KCNK3 (M388V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 4	GUncertain significance

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Items: 21