BEST3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +163 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 1701726	Single allele	FRS2, LOC130008282 +14 more	Duplication	not provided	GUncertain significance
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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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 2330936	NM_032735.3(BEST3):c.1604A>C (p.Gln535Pro)	BEST3 (Q322P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2376496	NM_032735.3(BEST3):c.1327C>G (p.Pro443Ala)	BEST3 (P230A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2291829	NM_032735.3(BEST3):c.1018G>A (p.Asp340Asn)	BEST3 (D234N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351986	NM_032735.3(BEST3):c.633G>T (p.Met211Ile)	BEST3 (M49I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312268	NM_032735.3(BEST3):c.587G>A (p.Arg196Gln)	BEST3 (R196Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2371515	NM_032735.3(BEST3):c.458C>A (p.Thr153Lys)	BEST3 (T153K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466554	NM_032735.3(BEST3):c.355G>A (p.Glu119Lys)	BEST3 (E13K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368539	NM_032735.3(BEST3):c.352G>A (p.Asp118Asn)	BEST3 (D12N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2532455	NM_032735.3(BEST3):c.178C>T (p.Arg60Cys)	BEST3 (R60C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	LYZ, MDM1 +34 more	Copy number loss	not provided	GPathogenic
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 980441	GRCh37/hg19 12q15(chr12:68572386-70833868)x1	BEST3, CCT2 +17 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 42