C1563715[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 324824	NM_000891.3(KCNJ2):c.-258C>T	KCNJ2	Single nucleotide variant (5 prime UTR variant)	Atrial fibrillation, familial, 9 +3 more	GUncertain significance
Select item 1273919	NM_000891.3(KCNJ2):c.-163_-162insTC	KCNJ2	Insertion (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 1280715	NM_000891.3(KCNJ2):c.-162_-161insGAGTAGT	KCNJ2	Insertion (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 324830	NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)	KCNJ2 (R40Q)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +5 more	GConflicting classifications of pathogenicity
Select item 1423577	NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg)	KCNJ2 (K50R)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 8923	NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)	KCNJ2	Single nucleotide variant (missense variant)	not specified +5 more	GPathogenic
Select item 403977	NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)	KCNJ2 (A70S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 449152	NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe)	KCNJ2 (C101F)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +3 more	GUncertain significance
Select item 1387485	NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val)	KCNJ2 (L108V)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 281601	NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)	KCNJ2 (G206S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 67585	NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)	KCNJ2 (R218Q)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +4 more	GPathogenic
Select item 1425317	NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe)	KCNJ2 (L232F)	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +3 more	GUncertain significance
Select item 453204	NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser)	KCNJ2 (N251S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 191474	NM_000891.3(KCNJ2):c.884T>C (p.Val295Ala)	KCNJ2 (V295A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 161257	NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser)	KCNJ2	Single nucleotide variant (missense variant)	Andersen Tawil syndrome +4 more	GUncertain significance
Select item 431842	NM_000891.3(KCNJ2):c.974G>A (p.Arg325His)	KCNJ2 (R325H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 190818	NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys)	KCNJ2 (E349K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 190819	NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu)	KCNJ2 (P415L)	Single nucleotide variant (missense variant)	Short QT syndrome type 3 +4 more	GConflicting classifications of pathogenicity
Select item 324838	NM_000891.3(KCNJ2):c.*213G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 890808	NM_000891.3(KCNJ2):c.*709A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 324851	NM_000891.3(KCNJ2):c.*1128dup	KCNJ2	Duplication (3 prime UTR variant)	Familial atrial fibrillation +4 more	GUncertain significance
Select item 324868	NM_000891.3(KCNJ2):c.*1794C>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 890396	NM_000891.3(KCNJ2):c.*2065A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 324872	NM_000891.3(KCNJ2):c.*2270G>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324873	NM_000891.3(KCNJ2):c.*2277C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324874	NM_000891.3(KCNJ2):c.*2483G>A	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance
Select item 324876	NM_000891.3(KCNJ2):c.*2616A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 324877	NM_000891.3(KCNJ2):c.*2663T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 324878	NM_000891.3(KCNJ2):c.*2698T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 324879	NM_000891.3(KCNJ2):c.*2775dup	KCNJ2	Duplication (3 prime UTR variant)	Andersen Tawil syndrome +4 more	GUncertain significance
Select item 1252100	NM_000891.3(KCNJ2):c.*2752T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +3 more	GBenign
Select item 1253769	NM_000891.3(KCNJ2):c.*2758T>C	KCNJ2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 888843	NM_000891.3(KCNJ2):c.*2887T>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Andersen Tawil syndrome +2 more	GUncertain significance
Select item 888915	NM_000891.3(KCNJ2):c.*3409A>G	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 9 +2 more	GUncertain significance
Select item 324897	NM_000891.3(KCNJ2):c.*3536C>T	KCNJ2	Single nucleotide variant (3 prime UTR variant)	Short QT syndrome type 3 +2 more	GUncertain significance

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Items: 35