BEST2[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 153423	GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1	BEST2, DHPS +57 more	Copy number loss	See cases	GUncertain significance
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 3260805	NM_017682.3(BEST2):c.7G>A (p.Val3Ile)	BEST2 (V3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133729	NM_017682.3(BEST2):c.10A>G (p.Thr4Ala)	BEST2 (T4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298600	NM_017682.3(BEST2):c.33C>A (p.Asn11Lys)	BEST2 (N11K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133737	NM_017682.3(BEST2):c.43G>A (p.Gly15Ser)	BEST2 (G15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395690	NM_017682.3(BEST2):c.74G>A (p.Arg25His)	BEST2 (R25H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133728	NM_017682.3(BEST2):c.101G>A (p.Arg34Gln)	BEST2 (R34Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568906	NM_017682.3(BEST2):c.166G>A (p.Glu56Lys)	BEST2 (E56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133735	NM_017682.3(BEST2):c.289T>C (p.Tyr97His)	BEST2 (Y97H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260807	NM_017682.3(BEST2):c.368T>A (p.Leu123His)	BEST2 (L123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133736	NM_017682.3(BEST2):c.374G>A (p.Arg125Gln)	BEST2 (R125Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681517	NM_017682.3(BEST2):c.382C>T (p.Leu128Phe)	BEST2 (L128F)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2317430	NM_017682.3(BEST2):c.409G>C (p.Val137Leu)	BEST2 (V137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594564	NM_017682.3(BEST2):c.556G>A (p.Val186Ile)	BEST2 (V186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250174	NM_017682.3(BEST2):c.653G>A (p.Arg218Gln)	BEST2 (R218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605201	NM_017682.3(BEST2):c.763C>T (p.Arg255Cys)	BEST2 (R255C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268277	NM_017682.3(BEST2):c.853G>A (p.Ala285Thr)	BEST2 (A285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599426	NM_017682.3(BEST2):c.1021G>A (p.Ala341Thr)	BEST2 (A341T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348744	NM_017682.3(BEST2):c.1067G>A (p.Arg356Gln)	BEST2 (R356Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2541875	NM_017682.3(BEST2):c.1151G>A (p.Gly384Glu)	BEST2, LOC130063661 (G384E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260806	NM_017682.3(BEST2):c.1153C>T (p.Pro385Ser)	BEST2, LOC130063661 (P385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133730	NM_017682.3(BEST2):c.1154C>T (p.Pro385Leu)	BEST2, LOC130063661 (P385L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133731	NM_017682.3(BEST2):c.1159G>A (p.Gly387Arg)	BEST2, LOC130063661 (G387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494749	NM_017682.3(BEST2):c.1166C>T (p.Ala389Val)	BEST2, LOC130063661 (A389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133732	NM_017682.3(BEST2):c.1289G>C (p.Gly430Ala)	BEST2, LOC130063661 (G430A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520027	NM_017682.3(BEST2):c.1292C>T (p.Ala431Val)	BEST2, LOC130063661 (A431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133734	NM_017682.3(BEST2):c.1303T>A (p.Cys435Ser)	BEST2, LOC130063661 (C435S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 1457169	NC_000019.9:g.(?_12757434)_(13617038_?)del	BEST2, CACNA1A +29 more	Deletion	Developmental and epileptic encephalopathy, 42 +3 more	GPathogenic
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	See cases	GPathogenic

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Items: 50