BEST3[gene] and "single gene"[properties] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1234899	NM_001282614.2(BEST3):c.1148C>T (p.Pro383Leu)	BEST3 (P383L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2494641	NM_032735.3(BEST3):c.2000C>T (p.Pro667Leu)	BEST3 (P667L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260809	NM_032735.3(BEST3):c.1991A>C (p.Glu664Ala)	BEST3 (E451A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463434	NM_032735.3(BEST3):c.1970T>C (p.Ile657Thr)	BEST3 (I444T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615669	NM_032735.3(BEST3):c.1964A>G (p.Asp655Gly)	BEST3 (D442G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600813	NM_032735.3(BEST3):c.1895T>C (p.Ile632Thr)	BEST3 (I526T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249431	NM_032735.3(BEST3):c.1864G>A (p.Glu622Lys)	BEST3 (E622K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133741	NM_032735.3(BEST3):c.1852T>G (p.Leu618Val)	BEST3 (L512V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260811	NM_032735.3(BEST3):c.1815C>A (p.Asn605Lys)	BEST3 (N605K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549655	NM_032735.3(BEST3):c.1766G>A (p.Arg589Lys)	BEST3 (R589K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643170	NM_032735.3(BEST3):c.1644C>T (p.Ser548=)	BEST3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3133740	NM_032735.3(BEST3):c.1636A>G (p.Met546Val)	BEST3 (M546V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3133739	NM_032735.3(BEST3):c.1624C>G (p.Gln542Glu)	BEST3 (Q329E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330936	NM_032735.3(BEST3):c.1604A>C (p.Gln535Pro)	BEST3 (Q322P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643171	NM_032735.3(BEST3):c.1599G>T (p.Gly533=)	BEST3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2361428	NM_032735.3(BEST3):c.1511T>C (p.Leu504Ser)	BEST3 (L398S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297881	NM_032735.3(BEST3):c.1501C>T (p.Pro501Ser)	BEST3 (P288S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260810	NM_032735.3(BEST3):c.1388A>G (p.His463Arg)	BEST3 (H250R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2376496	NM_032735.3(BEST3):c.1327C>G (p.Pro443Ala)	BEST3 (P230A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490325	NM_032735.3(BEST3):c.1207G>A (p.Glu403Lys)	BEST3 (E190K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133738	NM_032735.3(BEST3):c.1189C>T (p.Arg397Trp)	BEST3 (R184W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570444	NM_032735.3(BEST3):c.1130A>G (p.Glu377Gly)	BEST3 (E271G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234654	NM_032735.3(BEST3):c.1130A>C (p.Glu377Ala)	BEST3 (E377A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253919	NM_032735.3(BEST3):c.1125C>A (p.Asp375Glu)	BEST3 (D269E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260812	NM_032735.3(BEST3):c.1088C>T (p.Thr363Ile)	BEST3 (T150I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2921167	NM_032735.3(BEST3):c.1052C>G (p.Ala351Gly)	BEST3 (A245G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2232519	NM_032735.3(BEST3):c.1031G>A (p.Arg344His)	BEST3 (R344H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291829	NM_032735.3(BEST3):c.1018G>A (p.Asp340Asn)	BEST3 (D234N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133745	NM_032735.3(BEST3):c.944T>C (p.Leu315Ser)	BEST3 (L102S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341564	NM_032735.3(BEST3):c.819T>C (p.Ile273=)	BEST3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2351986	NM_032735.3(BEST3):c.633G>T (p.Met211Ile)	BEST3 (M49I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312268	NM_032735.3(BEST3):c.587G>A (p.Arg196Gln)	BEST3 (R196Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257251	NM_032735.3(BEST3):c.489G>A (p.Met163Ile)	BEST3 (M57I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371515	NM_032735.3(BEST3):c.458C>A (p.Thr153Lys)	BEST3 (T153K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466554	NM_032735.3(BEST3):c.355G>A (p.Glu119Lys)	BEST3 (E13K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368539	NM_032735.3(BEST3):c.352G>A (p.Asp118Asn)	BEST3 (D12N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230135	NM_032735.3(BEST3):c.254A>C (p.Tyr85Ser)	BEST3 (Y85S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3133742	NM_032735.3(BEST3):c.233T>A (p.Val78Glu)	BEST3 (V78E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2532455	NM_032735.3(BEST3):c.178C>T (p.Arg60Cys)	BEST3 (R60C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1272982	NM_032735.3(BEST3):c.147A>G (p.Val49=)	BEST3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2337631	NM_032735.3(BEST3):c.109A>G (p.Ile37Val)	BEST3 (I37V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133744	NM_032735.3(BEST3):c.82A>G (p.Ile28Val)	BEST3 (I28V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 42