ClinVar for Gene (Select 51027) - ClinVar

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

Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261347	NM_016074.5(BOLA1):c.258C>G (p.His86Gln)	BOLA1 (H86Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261346	NM_016074.5(BOLA1):c.134G>T (p.Ser45Ile)	BOLA1 (S45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261345	NM_016074.5(BOLA1):c.195G>T (p.Glu65Asp)	BOLA1 (E65D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134758	NM_016074.5(BOLA1):c.92C>T (p.Pro31Leu)	BOLA1 (P31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134757	NM_016074.5(BOLA1):c.39G>C (p.Met13Ile)	BOLA1 (M13I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134756	NM_016074.5(BOLA1):c.322G>A (p.Ala108Thr)	BOLA1 (A108T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062368	GRCh37/hg19 1q21.2-21.3(chr1:149713775-150385573)x1	ANP32E, APH1A +25 more	Copy number loss	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2558116	NM_016074.5(BOLA1):c.296G>T (p.Gly99Val)	BOLA1 (G99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522341	NM_016074.5(BOLA1):c.136C>T (p.Pro46Ser)	BOLA1 (P46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341204	NM_016074.5(BOLA1):c.308C>T (p.Ala103Val)	BOLA1 (A103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220730	NM_016074.5(BOLA1):c.77C>G (p.Ser26Cys)	BOLA1 (S26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565179	GRCh37/hg19 1q21.2(chr1:149802401-149944241)x3	SF3B4, H2AC19 +12 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 221417	GRCh37/hg19 1q21.2(chr1:149783688-150049029)x3	H2AC19, H2AC20 +15 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 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

Links from Gene

Items: 22