JADE1[gene] and "single gene"[properties] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2295772	NM_199320.4(JADE1):c.14G>T (p.Arg5Leu)	JADE1 (R5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112076	NM_199320.4(JADE1):c.104C>T (p.Ser35Phe)	JADE1 (S35F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261315	NM_199320.4(JADE1):c.116A>T (p.His39Leu)	JADE1 (H39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112084	NM_199320.4(JADE1):c.333G>T (p.Arg111Ser)	JADE1 (R111S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255336	NM_199320.4(JADE1):c.342G>C (p.Lys114Asn)	JADE1 (K114N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208114	NM_199320.4(JADE1):c.344A>G (p.Tyr115Cys)	JADE1 (Y115C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273064	NM_199320.4(JADE1):c.419G>A (p.Arg140His)	JADE1 (R128H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776017	NM_199320.4(JADE1):c.882A>G (p.Pro294=)	JADE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2460535	NM_199320.4(JADE1):c.924C>A (p.Ser308Arg)	JADE1 (S296R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778861	NM_199320.4(JADE1):c.982-6T>C	JADE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2532786	NM_199320.4(JADE1):c.1120C>A (p.Pro374Thr)	JADE1 (P362T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308625	NM_199320.4(JADE1):c.1155G>T (p.Glu385Asp)	JADE1 (E373D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112077	NM_199320.4(JADE1):c.1157A>G (p.Asn386Ser)	JADE1 (N374S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399602	NM_199320.4(JADE1):c.1175C>T (p.Ser392Phe)	JADE1 (S392F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339765	NM_199320.4(JADE1):c.1427A>G (p.Asn476Ser)	JADE1 (N464S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112078	NM_199320.4(JADE1):c.1450G>A (p.Val484Ile)	JADE1 (V472I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491329	NM_199320.4(JADE1):c.1549C>T (p.Arg517Trp)	JADE1 (R505W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472468	NM_199320.4(JADE1):c.1651C>A (p.Leu551Met)	JADE1 (L551M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242066	NM_199320.4(JADE1):c.1784A>G (p.His595Arg)	JADE1 (H42R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296512	NM_199320.4(JADE1):c.1789C>G (p.Arg597Gly)	JADE1 (R44G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112079	NM_199320.4(JADE1):c.1790G>A (p.Arg597Gln)	JADE1 (R585Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776018	NM_199320.4(JADE1):c.1899A>G (p.Leu633=)	JADE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2292652	NM_199320.4(JADE1):c.1969G>A (p.Gly657Arg)	JADE1 (G657R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776019	NM_199320.4(JADE1):c.1985A>G (p.Asn662Ser)	JADE1 (N650S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2554800	NM_199320.4(JADE1):c.2002C>T (p.Leu668Phe)	JADE1 (L115F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368522	NM_199320.4(JADE1):c.2050C>T (p.Pro684Ser)	JADE1 (P672S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112081	NM_199320.4(JADE1):c.2051C>T (p.Pro684Leu)	JADE1 (P684L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554382	NM_199320.4(JADE1):c.2075A>G (p.Gln692Arg)	JADE1 (Q692R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112082	NM_199320.4(JADE1):c.2114G>C (p.Gly705Ala)	JADE1 (G693A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247061	NM_199320.4(JADE1):c.2245G>A (p.Gly749Arg)	JADE1 (G737R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112083	NM_199320.4(JADE1):c.2254C>T (p.Arg752Trp)	JADE1 (R752W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281038	NM_199320.4(JADE1):c.2299G>C (p.Asp767His)	JADE1 (D767H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268421	NM_199320.4(JADE1):c.2332T>C (p.Tyr778His)	JADE1 (Y778H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207715	NM_199320.4(JADE1):c.2348G>A (p.Arg783Gln)	JADE1 (R771Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454943	NM_199320.4(JADE1):c.2354C>T (p.Pro785Leu)	JADE1 (P785L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332780	NM_199320.4(JADE1):c.2479A>G (p.Thr827Ala)	JADE1 (T815A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 36