BLCAP[gene] - ClinVar - NCBI

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

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 3134119	NM_006698.4(BLCAP):c.247G>A (p.Gly83Ser)	BLCAP (G83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134118	NM_006698.4(BLCAP):c.221C>T (p.Pro74Leu)	BLCAP (P74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557669	NM_006698.4(BLCAP):c.220C>T (p.Pro74Ser)	BLCAP (P74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134117	NM_006698.4(BLCAP):c.176A>G (p.Tyr59Cys)	BLCAP (Y59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240561	NM_006698.4(BLCAP):c.115G>C (p.Glu39Gln)	BLCAP (E39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300184	NM_005386.4(NNAT):c.17C>T (p.Ala6Val)	BLCAP, NNAT (A6V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2340777	NM_005386.4(NNAT):c.54C>G (p.Ile18Met)	BLCAP, NNAT (I18M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3300183	NM_005386.4(NNAT):c.55T>G (p.Phe19Val)	BLCAP, NNAT (F19V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2685645	GRCh37/hg19 20q11.23(chr20:36112920-36787057)x1	BLCAP, CTNNBL1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 2426164	NC_000020.10:g.(?_35569422)_(36500415_?)dup	BLCAP, CTNNBL1 +8 more	Duplication	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic