FAM157B[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238683	GRCh38/hg38 9q34.3(chr9:136806104-138394717)	LOC130003043, LOC130003044 +199 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238681	GRCh38/hg38 9q34.3(chr9:137552082-138394717)	ABCA2, ANAPC2 +168 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238688	GRCh38/hg38 9q34.3(chr9:137106653-138394717)	ANAPC2, ARRDC1 +128 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238717	GRCh38/hg38 9q34.3(chr9:137170000-138360000)	ANAPC2, ARRDC1 +114 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238726	GRCh38/hg38 9q34.3(chr9:137505613-138394717)	ARRDC1, ARRDC1-AS1 +49 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238693	GRCh38/hg38 9q34.3(chr9:138125938-138394717)	ARRDC1, ARRDC1-AS1 +48 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238698	GRCh38/hg38 9q34.3(chr9:137614558-138394717)	ARRDC1, ARRDC1-AS1 +33 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238718	GRCh38/hg38 9q34.3(chr9:137778047-138231664)	CACNA1B, CACNA1B-AS1 +13 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 145714	GRCh38/hg38 9q34.3(chr9:138138686-138248277)x3	FAM157B, LOC101928932	Copy number gain	See cases	GBenign
Select item 151945	GRCh38/hg38 9q34.3(chr9:138143421-138231605)x3	FAM157B, LOC101928932	Copy number gain	See cases	GBenign
Select item 152086	GRCh38/hg38 9q34.3(chr9:138150299-138255955)x3	FAM157B, LOC101928932	Copy number gain	See cases	GBenign
Select item 145789	GRCh38/hg38 9q34.3(chr9:138167115-138248277)x3	FAM157B, LOC101928932	Copy number gain	See cases	GBenign
Select item 151922	GRCh38/hg38 9q34.3(chr9:138179401-138255955)x3	FAM157B, LOC101928932	Copy number gain	See cases	GBenign
Select item 145697	GRCh38/hg38 9q34.3(chr9:138179401-138231605)x3	FAM157B, LOC101928932	Copy number gain	See cases	GBenign
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	DPH7, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic