"Ambry Genetics"[submitter] AND "JADE2"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2212326	NM_001388185.1(JADE2):c.280G>A (p.Gly94Arg)	JADE2 (G110R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235112	NM_001388185.1(JADE2):c.455C>T (p.Ser152Leu)	JADE2 (S152L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362223	NM_001388185.1(JADE2):c.988G>A (p.Val330Ile)	JADE2 (V346I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2589430	NM_001388185.1(JADE2):c.1037G>A (p.Arg346Gln)	JADE2 (R362Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368310	NM_001388185.1(JADE2):c.1042A>G (p.Ile348Val)	JADE2 (I348V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478735	NM_001388185.1(JADE2):c.1206G>T (p.Glu402Asp)	JADE2 (E402D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412014	NM_001388185.1(JADE2):c.1262A>T (p.Glu421Val)	JADE2 (E421V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278012	NM_001388185.1(JADE2):c.1475C>A (p.Thr492Lys)	JADE2 (T508K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403452	NM_001388185.1(JADE2):c.1499A>G (p.Gln500Arg)	JADE2 (Q500R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294247	NM_001388185.1(JADE2):c.1807G>A (p.Asp603Asn)	JADE2 (D560N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221536	NM_001388185.1(JADE2):c.1899C>A (p.Asp633Glu)	JADE2 (D589E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359149	NM_001388185.1(JADE2):c.1915C>G (p.Arg639Gly)	JADE2 (R596G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301933	NM_001388185.1(JADE2):c.1982C>T (p.Ser661Leu)	JADE2 (S660L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526067	NM_001388185.1(JADE2):c.1984C>T (p.Arg662Trp)	JADE2 (R619W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546424	NM_001388185.1(JADE2):c.1988C>T (p.Thr663Met)	JADE2 (T662M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557539	NM_001388185.1(JADE2):c.2051A>G (p.Gln684Arg)	JADE2 (Q640R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338474	NM_001388185.1(JADE2):c.2121C>A (p.Asp707Glu)	JADE2 (D663E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508900	NM_001388185.1(JADE2):c.2149C>T (p.Pro717Ser)	JADE2 (P673S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382172	NM_001388185.1(JADE2):c.2174C>T (p.Pro725Leu)	JADE2 (P725L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2357729	NM_001388185.1(JADE2):c.2179G>A (p.Glu727Lys)	JADE2 (E684K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361822	NM_001388185.1(JADE2):c.2252G>A (p.Arg751Gln)	JADE2 (R750Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596021	NM_001388185.1(JADE2):c.2257C>T (p.Arg753Trp)	JADE2 (R710W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393759	NM_001388185.1(JADE2):c.2353G>A (p.Val785Ile)	JADE2 (V741I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510186	NM_001388185.1(JADE2):c.2475G>C (p.Glu825Asp)	JADE2 (E782D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537826	NM_001388185.1(JADE2):c.2482C>T (p.Arg828Cys)	JADE2 (R784C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227985	NM_001388185.1(JADE2):c.2483G>A (p.Arg828His)	JADE2 (R844H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 26