BEAN1-AS1[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 145310	GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	ATP6V0D1, B3GNT9 +113 more	Copy number loss	See cases	GPathogenic
Select item 3053333	NM_001178020.3(BEAN1):c.218GCCACCACC[1] (p.73RHH[1])	BEAN1, BEAN1-AS1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 2646598	NM_001178020.3(BEAN1):c.226C>A (p.Arg76Ser)	BEAN1, BEAN1-AS1 (R76S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 2242127	NM_001178020.3(BEAN1):c.254G>A (p.Arg85His)	BEAN1, BEAN1-AS1 (R85H)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2224674	NM_001178020.3(BEAN1):c.259C>T (p.Arg87Cys)	BEAN1, BEAN1-AS1 (R87C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3133650	NM_001178020.3(BEAN1):c.260G>A (p.Arg87His)	BEAN1, BEAN1-AS1 (R87H)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 808054	NM_001178020.3(BEAN1):c.269G>A (p.Arg90Gln)	BEAN1, BEAN1-AS1 (R90Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3041320	NM_001178020.3(BEAN1):c.289+10C>T	BEAN1, BEAN1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	BEAN1-related disorder	GBenign